US 20070135335A1 (19) United States (12) Patent Application Publication (10) Pub. No.: US 2007/0135335 A1 Collier et al. (43) Pub. Date: Jun. 14, 2007

(54) THERAPEUTIC MOLECULES Related U.S. Application Data (75) Inventors: Greg Collier, Victoria (AU); Ken (60) Provisional application No. 60/446,191, filed on Feb. Walder, Victoria (AU); Lyndal 10, 2003. Kerr-Bayles, Victoria (AU) Publication Classification Correspondence Address: SCULLY, SCOTT, MURPHY & PRESSER, P.C. (51) Int. Cl. 4OO GARDEN CITY PLAZA A6II 38/17 (2006.01) SUTE 3OO A6IR 48/00 (2006.01) GARDEN CITY, NY 11530 (US) C07K I4/705 (2006.01) (52) U.S. Cl...... 514/12: 514/44; 530/350 (73) Assignees: Autogen Research Pty Ltd., North Brighton, Victoria (AU); Deakin Univer (57) ABSTRACT sity, Waurn Ponds, Victoria (AU) The present invention relates generally to a ligand for a protein associated with modulating obesity, diabetes and (21) Appl. No.: 10/545,099 metabolic energy levels in animals including humans. More (22) PCT Fed: Feb. 10, 2004 particularly, the present invention provides a ligand of the protein, Beacon, and its homologs. The identification of a (86) PCT No.: PCT/AUO4/OO147 Beacon ligand permits the identification of agents which agonize or antagonize the Beacon-ligand interaction and, S 371(c)(1), hence, the development of therapeutic molecules useful in (2), (4) Date: May 4, 2006 modulating obesity, diabetes and/or energy imbalance. Patent Application Publication Jun. 14, 2007 Sheet 1 of 5 US 2007/0135335 A1

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THERAPEUTIC MOLECULES 0008. In Australia, the recent AusLiab study estimated that 7.5 million Australians (60%) aged 25 years and over BACKGROUND OF THE INVENTION were overweight or obese. Of these, 2.6 million (21%) were 0001) 1. Field of the Invention obese (BMI>30) (Dunstan et al., Diabetes Res. Clin. Pract. 0002 The present invention relates generally to a ligand 57: 119-129, 2002). Similarly, the prevalence of obesity in for a protein associated with or which acts as a marker for the U.S. increased substantially between 1991 and 1998, conditions of inter alia a healthy or unhealthy state, includ increasing from 12% to 18% in Americans during this period ing the presence or absence of a disorder associated with (Mokdad et al., JAMA 282(16): 1519-1522, 1999). myopathy, obesity, anorexia, weight maintenance, diabetes, 0009. The high and increasing prevalence of obesity has disorders associated with mitochondrial dysfunction, serious health implications for both individuals and society genetic disorders, cancer, heart disease, inflammation, dis as a whole. Obesity is a complex and heterogeneous disorder orders associated with the immune system, infertility, dis and has been identified as a key risk indicator of preventable ease associated with the brain and/or metabolic energy morbidity and mortality. Obesity, for example, increases the levels. More particularly, the present invention is directed to risk of a number of other metabolic conditions including a ligand of the protein Beacon and its use or the interaction Type 2 diabetes mellitus and cardiovascular disease (Must et itself in therapeutic and diagnostic protocols for conditions al., JAMA 282(16): 1523-1529, 1999: Kopelman, Nature Such as inter alia a disorder associated with myopathy, 404: 635-643, 2000). Alongside obesity the prevalence of obesity, anorexia, weight maintenance, diabetes, disorders diabetes continues to increase rapidly. The AusLiab survey associated with mitochondrial dysfunction, genetic disor estimated that close to 1 million Australians aged 25 years ders, cancer, heart disease, inflammation, disorders associ and over have Type 2 diabetes (Dunstan et al., 2002 supra). ated with the immune system, infertility, disease associated This represents approximately 7.5% of the population. In the with the brain and/or metabolic energy levels. The Beacon U.S., the number of adults with diabetes increased by 49% ligand interaction is further useful as a target for the design between 1991 and 2000 (Marx, Science 686-689, 2002). It and/or identification of modulators of the activity and/or has been estimated that about 17 million people in the U.S. function of Beacon, its ligand or its interaction. The Subject have Type 2 diabetes and an equal number are thought to be ligand, therefore, is useful as a drug target or a target for pre-diabetic (Marx, 2002 supra). In Australia, the annual drug design or development. costs of obesity associated with diabetes and other disease 0003 2. Description of the Prior Art conditions has been conservatively estimated to be AUS S810 million for 1992-93 (National Health and Medical 0004 Bibliographic details of references provided in the Research Council, Acting on Australia's weight: A Strategy Subject specification are listed at the end of the specification. for the prevention of overweight and obesity. Canberra. 0005 Reference to any prior art in this specification is National Health and Medical Research Council, 1996). The not, and should not be taken as, an acknowledgment or any direct costs of diabetes and its complications in Australia in form of Suggestion that this prior art forms part of the 1993-94 were estimated at S681 million, or 2.2% of total common general knowledge in any country. health system costs in that year (Australian Institute of 0006 The increasing sophistication of recombinant DNA Health and Welfare (AIWH), Australia's Health, 2002, Can technology is greatly facilitating research and development berra: AIWH). in the medical, veterinary and allied human and animal 0010. A genetic basis for the etiology of obesity is health fields. This is particularly the case in the investigation indicated inter alia from Studies in twins, adoption studies of the genetic bases involved in the etiology of certain and population-based analyses which suggest that genetic disease conditions. One particularly significant condition effects account for 25-80% of the variation in body weight from the stand point of morbidity and mortality is obesity in the general population (Bouchard, 1994, Supra; Kopelman and its association with Type 2 diabetes and cardiovascular et al., Int. J. Obesity 18: 188-191, 1994; Ravussin, Metabo disease. lism 44(3): 12-14, 1995). It is considered that genes deter 0007 Obesity is defined as a pathological excess of body mine the possible range of body weight in an individual and fat and is the result of an imbalance between energy intake then the environment influences the point within this range and energy expenditure for a Sustained period of time. where the individual is located at any given time (Bouchard, Obesity is the most common metabolic disease found in 1994, Supra). However, despite numerous studies into genes affluent societies. The prevalence of obesity in these affluent thought to be involved in the pathogenesis of obesity, there Societies is alarmingly high, ranging from 10% to upwards have been Surprisingly few significant findings in this area. of 50% in some sub-populations (Bouchard, The genetics of In addition, genome-wide scans in various population Obesity, Boca Raton: CRC Press, 1994). Of particular groups have not produced definitive evidence of the chro concern is the fact that the prevalence of obesity appears to mosomal regions having a major effect on obesity. be rising consistently in affluent Societies and is now 0011) A number of tissues have been implicated in the increasing rapidly in less prosperous nations as they become pathophysiology of obesity and type 2 diabetes, and of more affluent and/or adopt cultural practices similar to those particular interest is the hypothalamus. The hypothalamus in more affluent countries (Zimmet, Diabetes Care 15: has long been recognized as a key brain area in the regula 232-252, 1992). The escalating rates of obesity globally tion of energy intake (Stellar, Psychol Rev 61: 5-22, 1954) have resulted in the World Health Organisation declaring an and it is now widely accepted that the hypothalamus plays obesity epidemic worldwide (World Trade Organisation. a central role in energy homeostasis, integrating and coor Obesity. Preventing and managing the global epidemic. dinating a large number of factors produced by and/or acting Report of a WHO Consultation on Obesity. Geneva: World on the hypothalamus. A number of these factors have been Health Organisation, 1998). investigated for their role in energy balance and body weight US 2007/01 35335 A1 Jun. 14, 2007

regulation, including neuropeptide Y, corticotropin-releas Diabetes 49: 1766-1771, 2000). Beacon treated animals ing hormone, melanin-concentrating hormone, leptin and revealed that the increase in body weight was a direct insulin. It has been proposed that genetic alterations per consequence of increased food intake as the treatment turbing the metabolic pathways regulating energy balance in affected neither the physical activity nor the energy expen the hypothalamus could contribute to the development of diture. The increase in body weight corresponded largely to obesity, and Subsequently diabetes. Thus, an important step an increase in fat content as the weight of the other organs in understanding the function of the hypothalamus in regu remained unchanged (Walder et al., Int. J. Obes. Relat. lating the metabolism of an animal requires the identification Metab. Disord. 25: 1281-1285, 2001). of the targets of these hormones. Such targets may be whole 0019. The Beacon gene (referred to herein as “Beacon') organs, and genes whose expression is regulated by the encodes a protein in P. obesus of 73 amino acids that is presence of these hormones. highly conserved across species and shares 100% sequence 0012 Another important condition involveing energy identity with the corresponding human and mouse homologs expenditure involes mitochondrial dysfunction. (Collier et al., 2000, supra). A number of peptides either 0013 Mitochondrial dysfunction refers to any illness produced or acting in the brain are involved in a complex resulting from a deficiency of any mitochondrial-located network of neuronal signalling processes that control energy protein which is involved in energy metabolism. Therefore, intake and energy expenditure. Beacon shows some deficiencies of the respiratory (electron transport) chain, sequence homology to ubiquitins but not to any of the either resulting from a deficiency in one or more of the known peptides involved in the control of energy balance. mitochondrial or nuclear-encoded proteins, are mitochon Absence of a diglycine motif in the C-terminus precludes drial disorders. Also, by definition, disorders of the fatty acid any typical ubiquitin-like function for Beacon (Hershko and (beta) oxidation, Krebs cycle and pyruvate dehydrogenase Ciechanover, Annu. Rev. Biochem, 67: 425-479, 1998). complex deficiency are mitochondrial disorders. Although 0020. The identification of Beacon ligands provides tar these disorders may be genetically dissimilar, mitochondrial gets for the development of therapeutic molecules which dysfunction results in an energy deficient state. modulate Beacon-ligand interaction and thereby will affect 0014. There is no one identifying feature of mitochon a range of conditions. drial disease. Subjects can have combinations of problems SUMMARY OF THE INVENTION whose onset may occur from before birth to late adult life. Mitochondrial diseases should be considered in the differ 0021. Throughout this specification, unless the context ential diagnosis when there are unexplained features, espe requires otherwise, the word “comprise', or variations such cially when these occur in combination. Mitochondrial as “comprises' or “comprising, will be understood to imply disease and disorders can affect multiple organs, resulting in the inclusion of a stated element or integer or group of a vast array of symptoms. Symptoms which may affect the elements or integers but not the exclusion of any other brain include, developmental delays, mental retardation, element or integer or group of elements or integers. dementia, seizures, neuro-psychiatric disturbances, atypical 0022 Nucleotide and amino acid sequences are referred cerebral palsy, migraines, strokes. to by a sequence identifier number (SEQID NO:). The SEQ 0.015 Cancer is also one of the most debilitating disease ID NOs: correspond numerically to the sequence identifiers conditions affecting predominantly humans but also a range <400>1 (SEQ ID NO:1), <400>2 (SEQ ID NO:2), etc. A of animals. The health cost to the world-wide community summary of the sequence identifiers is provided in Table 1. runs into the billions of dollars, let alone the personal cost A sequence listing is provided at the end of the specification. to families. 0023 The articles “a” and “an are used herein to refer to 0016 Mitochondrial disease and cancer, therefore, are one or more than one (i.e. to at least one) of the grammatical significant conditions requiring expenditure of time and object of the article. By way of example, “an element' financial resources to develop new methods of treatment, means one element or more than one element; an antagonist prevention and diagnosis. or an agonist means a single antagonist or agonist or more than one antagonist or agonist. 0017 International patent Application No. PCT/AU98/ 00902 WO 99/23217 and U.S. Pat. No. 6,436,670 0024. The present invention identifies proteins which described the identification of a protein referred to as interact with Beacon. Three members of a distinct sub Beacon which was found to be elevated in hypothalamus family of human kinases, termed cac2/cdc28-liked kinases tissue of an obese Psammomys obesus (Israeli Sand Rat). or “CLKs', are identified as ligands of Beacon. Reference to The Israeli Sand Rat is a unique animal model for investi “Beacon' or its corresponding gene sequence, “Beacon'. gating the underlying molecular and signaling mechanisms includes reference to this molecule from any animal, pref that contribute to maintenance of energy balance (Walder et erably mammal and most preferably human. al., Int. J. Exp. Diabetes Res. 1: 177-184, 2000; Walder et al., 0025 Yeast two-hybrid screening is one approach used to Endocr: Regul. 36:1-8, 2002). identify human CLK1, 2 and 4 as Beacon ligands. The CLKs 0018 Beacon was originally discovered using differential belong to the LAMMER family of kinases due to the display PCR as a gene expressed at higher levels in the presence of the EHLAMMERILG (SEQID NO:1) signature hypothalamus of obese P. obesus compared to their lean motif in the substrate binding cleft. CLKs are duel specific littermates. In further studies, ICV administration of Beacon kinases and have an ability to cis and trans phosphorylate into lean P. obesus stimulated food intake and produced serine, threonine and tyrosine residues on target proteins. significant weight gain accompanied by a two-fold increase 0026. However, although Beacon binds to the CLKs, it is in the hypothalamic gene expression of NPY (Collier et al., not a Substrate for phosphorylation. It is proposed that US 2007/01 35335 A1 Jun. 14, 2007 elements of a healthy or unhealthy state, including the presence or absence of a disorder associated with myopathy, TABLE 2 obesity, anorexia, weight maintenance, diabetes, disorders associated with mitochondrial dysfunction, genetic disor Summary of sequence identifiers ders, cancer, heart disease, inflammation, disorders associ SEQUENCE ated with the immune system, infertility, disease associated ID NO: DESCRIPTION with the brain and/or metabolic energy levels are modulated 1 Amino acid signature motif of human CLKS EHLAMMERILG by the Beacon-CLK interaction. Soluble forms of CLKs, for 2 Nucleotide sequence of Beacon example, may act as antagonists of the Beacon-CLK inter 3 Corresponding amino acid sequence of action. Alternatively, the interaction itself may be used to Beacon 4 Nucleotide sequence of human Beacon identify agonists or antagonist of the interaction. 5 Amino acid sequence of short form of Beacon 0027. The present invention provides, therefore, methods 6 forward primer 5' (CLK1) for the prophylaxis or treatment of a healthy or unhealthy 7 reverse primer 5' (CLK1) 8 forward primer 5' (CLK2) state, including the presence or absence of a disorder asso 9 reverse primer 5' (CLK2) ciated with myopathy, obesity, anorexia, weight mainte 10 forward primer 5' (CLK4) nance, diabetes, disorders associated with mitochondrial 11 reverse primer 5' (CLK4) dysfunction, genetic disorders, cancer, heart disease, inflam mation, disorders associated with the immune system, infer tility, disease associated with the brain and/or metabolic BRIEF DESCRIPTION OF THE FIGURES energy levels in a Subject by the administration of an agonist 0032 FIG. 1 is a photographic representation of the or antagonist of Beacon-CLK interaction. The agonists and interaction between Beacon, HSPB2 and CLK4-partial in antagonists may also act at the genetic level to modulate the yeast two-hybrid assay. MaV203 cells were co-trans expression of the Beacon gene and/or CLK gene. formed with plDBBeacon and either clone 12 (HSPB2), clone 16 (HSPB2) or clone 31 (CLK4 partial), and patched 0028. An example of an antagonist is a soluble form or onto selective media lacking leucine and tryptophan-(Leu, truncated form of CLK1, 2 or 4 or a non-functional form of Trp) (A) Interactions were confirmed by growth on-(Leu, Beacon which nevertheless binds to CLK1, 2 or 4. Trp, His)+20 mM 3AT (B) and-(Leu, Trp, Ura) (C); and by monitoring color development in a B-galactosidase filter 0029. The present invention is further directed to a com assay (D) B, C and D are replicas of the master plate A. position Such as a pharmaceutical composition comprising Strength of the interaction is demonstrated by comparison to an agonist or antagonist of Beacon-CLK interaction and one control strains 1-5. or more pharmaceutically acceptable carriers and/or dilu ents. Again, the composition may alternatively comprise 0033 FIG. 2 is a photographic representation showing kinase activity of CLK proteins. Kinase assay was carried genetic modulators of Beacon and CLK expression. out as described in the Examples. No protein (No protein); 0030) A list of abbreviations used herein is provided in GST (19 Jug); GST-CLK1 (3 ug); GST-CLK2 (6 ug); GST Table 1. CLK4 (19 Jug). 0034 FIG. 3 is a graphical representation showing the TABLE 1. interaction between Beacon and human CLK1, 2 and 4. SPR analyses were performed as described in the Examples. Abbreviations Beacon immobilized on CM5 sensor chip generated 1800 2100 RU. Analyte samples injected and the heat treatments ABBREVIATION DESCRIPTION are as listed here:— clone 12 encodes heat shock protein 2 0035 (A) GST-CLK1 (1: 1.68 ug; 2: 0.84 ug); clone 16 encodes heat shock protein 2 clone 31 encodes CLK4 0036) (B) GST CLK2 (1: 1.56 ug; 2: 0.78 ug: 3: 0.50 ug: HSPB2 heat shock protein 2 4: 0.26 Jug); CLK codc2cdc28 like kinase ICV intra-cerebro ventricular 0037 (C) GST CLK4 (1: 0.98 ug; 2: 0.49 ug: 3: 0.33 ug: NPY neuropeptide Y 4: 0.24 Lig); GST glutathione S-transferase IPTG isopropylthio 3-galactoside 0038 (D) GST-CLK1 (1: 1.68 ug; 2: 1.68 ug treated at SDS-PAGE sodium dodecyl Sulfate-polyacrylaminde 65° C. for 10 min); gel electrophoresis SPR Surface plasmon resonance 0.039 (E) GST-CLK2 (1:1.00 ug; 2: 1.00 ug treated at PTP1B protein tyrosine phosphatase 1B 65° C. for 10 min); GST CLK4 (1: 1.30 ug: 2: 1.30 ug SR-proteins serinefarginine-rich proteins treated at 70° C. for 10 min). C-MSH C.-melanocyte stimulating hormorne DETAILED DESCRIPTION OF THE PREFERRED EMBODIMENTS 0031. A summary of sequence identifiers used throughout 0040. The present invention provides a ligand of a protein the subject specification is provided in Table 2. or a derivative, homolog, analog or mimetic of said protein US 2007/01 35335 A1 Jun. 14, 2007 which protein is produced in larger amounts in hypothala 5: 193-200, 1997a). Other phenotypes found include hyper mus tissue of obese animals compared to lean animals. insulinemia, dyslipidemia and impaired glucose tolerance (Collier et al., 1997a; supra; Collier et al., Exp Clin 0041. The present invention is predicated in part on the Endocrinol Diabetes 105:36-37, 1997b). Psammomys obe identification of a ligand for the product of a gene associated sus exhibit a range of bodyweight and blood glucose and inter alia with regulation of obesity, diabetes and energy insulin levels which forms a continuous curve that closely balance, obesity and diabetes. The preferred gene is referred resembles the patterns found in human populations, includ to as “Beacon' and was identified following differential ing the inverted U-shaped relationship between blood glu screening of hypothalamic mRNA between lean and obese cose and insulin levels known as "Starling's curve of the animals (see International Patent Application No. PCT/ pancreas” (Barnett et al., 1994a: supra). It is the hetero AU98/00902 WO 99/23217 and U.S. Pat. No. 6,436,670 geneity of the phenotypic response of Psammomys obesus which is incorporated herein by reference). which make it an ideal model to study the etiology and 0042. The term “ligand’ means a peptide, polypeptide or pathophysiology of obesity and NIDDM. protein which binds, forms a close interaction to or which otherwise associates with a protein involved in energy 0046) Psammomys obesus animals are conveniently imbalance, obesity and diabetes. Examples of ligands con divided into three groups viz. Group A animals which are templated by the present invention include cell bound recep lean, normoglycemic and normoinsulinemic, Group B ani tors, soluble receptors, intracellular ligands, extracellular mals which are obese, normoglycemic and hyperinuslinemic ligands and partners in a complex comprising the protein and Group C animals which are obese, hyperglycemic and involved in energy imbalance, obesity and diabetes. A single hyperinsulinemic. ligand may be involved in interaction with the protein or a 0047 A preferred aspect of the present invention is complex of two or more ligands may be required to from a directed to a ligand capable of interacting with “Beacon'. complex with the subject protein. The term “ligand also the product of the gene “Beacon'. The nucleotide sequence includes binding or interacting partners, cell bound receptors of Beacon is set forth in SEQ ID NO:2 and SEQ ID NO:4. and soluble receptors. The amino acid sequence of beacon is set forth in SEQ ID 0043. In a preferred embodiment, the ligand for Beacon NO:3 and SEQ ID NO:5. is a member of the cdc2/cdc28-like kinase (CLK) family. In 0048. The present invention provides, therefore, a CLK a particularly preferred embodiment, the ligand is selected in isolated form or a derivative, homolog, analog or mimetic from CLK1, CLK2 and CLK4. The Beacon molecule or its which CLK is capable of interacting with a protein which is ligand may be from any animal. Such as a mammal including produced in a larger amount of hypothalamus tissue of obese a human. Heterologous combinations of Beacon molecules animals compared to lean animals and which is encoded by of ligands from different animal species is also contem a nucleotide sequence substantially as set forth in SEQ ID plated. NO:2 or SEQ ID NO:4 or a nucleotide sequence having at 0044) The terms “lean” and “obese" are used in their least about 50% similarity thereto or a nucleotide sequence most general sense but should be considered relative to the capable of hybridizing SEQID NO:2 or SEQID NO.4 under standard criteria for determining obesity. Generally, for low stringency conditions. Preferably, the CLK is a human human subjects the definition of obesity is BMI>30 (Risk CLK and Beacon is human Beacon. Reference to “CLK' Factor Prevalence Study Management Committee. Risk including reference to all forms of CLK including CLK1, Factor Prevalence Study: Survey No. 3:1989. Canberra: CLK2 and CLK4 as well as polymorphic variants thereof National hearth Foundation of Australia and Australian and mutants and derivatives and homologs. Institute of Health, 1990; Waters and Bennett, Risk Factors 0049 Another aspect of the present invention is directed for Cardiovascular Disease: A Summary of Australian data. to a ligand capable of interacting with a protein which Canberra: Australian Institute of Health and Welfare, 1995). comprises the amino acid sequence Substantially as set forth 0045 Conveniently, an animal model was employed to in SEQID NO:3 or SEQID NO:5 or an amino acid sequence study the effects of obese and lean animals. In particular, having at least 50% similarity thereto and wherein said WO 02/062994 exemplified differentially expressed genes protein is produced in larger amounts in hypothalamus tissue using the Psammomys obesus (the Israeli sand rat) animal of obese animals compared to lean animals. model of dietary-induced obesity and NIDDM. In its natural 0050 Reference herein to similarity is generally at a level desert habitat, an active lifestyle and saltbush diet ensure of comparison of at least 15 consecutive or Substantially that they remain lean and normoglycemic (Shafrir and consecutive nucleotides or at least 5 consecutive or Substan Gutman, J Basic Clin Physiol Pharm 4: 83-99, 1993). However, in a laboratory setting on a diet of ad libitum chow tially consecutive amino acid residues. Preferred percentage (on which many other animal species remain healthy), a similarities have at least about 40%, at least about 50%, at range of pathophysiological responses are seen (Barnett et least about 60%, at least about 70%, at least about 80% and a.1, Diabetologia 37: 671-676, 1994a: Barnett et al., Int. J. at least about 90% or above. Examples include 41, 42, 43, Obesity 18: 789-794, 1994b, Barnett et al., Diabete Nutr 44, 45, 46, 47, 48, 49, 50, 51, 52, 53, 54, 55, 56, 57, 58, 59, Metab 8: 42-47, 1995). By the age of 16 weeks, more than 60, 61, 62, 63, 64, 65, 66, 67, 68, 69, 70, 71, 72, 73, 74, 75, half of the animals become obese and approximately one 76, 77, 78, 79,80, 81, 82, 83, 84, 85, 86, 87, 88, 89,90,91, third develop NIDDM. Only hyperphagic animals go on to 92, 93, 94, 95, 96, 97,98, 99 and 100%. develop hyperglycemia, highlighting the importance of 0051. The term “similarity” as used herein includes exact excessive energy intake in the pathophysiology of obesity identity between compared sequences at the nucleotide or and NIDDM in Psammomys obesus (Collier et al., Ann New amino acid level. Where there is non-identity at the nucle York AcadSci 827: 50-63, 1997a; Walder et al., Obesity Res otide level, “similarity” includes differences between US 2007/01 35335 A1 Jun. 14, 2007

sequences which result in different amino acids that are identity. For the purposes of the present invention, nevertheless related to each other at the structural, func “sequence identity” will be understood to mean the “match tional, biochemical and/or conformational levels. Where percentage' calculated by the DNASIS computer program there is non-identity at the amino acid level, “similarity” (Version 2.5 for windows; available from Hitachi Software includes amino acids that are nevertheless related to each engineering Co., Ltd., South San Francisco, Calif., USA) other at the structural, functional, biochemical and/or con using standard defaults as used in the reference manual formational levels. In a particularly preferred embodiment, accompanying the Software. Similar comments apply in nucleotide and sequence comparisons are made at the level relation to sequence similarity. of identity rather than similarity. 0054 Reference herein to a low stringency includes and 0.052 Terms used to describe sequence relationships encompasses from at least about 0 to at least about 15% V/v between two or more polynucleotides or polypeptides formamide and from at least about 1 M to at least about 2 M include “reference sequence”, “comparison window'. salt for hybridization, and at least about 1 M to at least about "sequence similarity', 'sequence identity”, “percentage of 2 M salt for washing conditions. Generally, low stringency sequence similarity”, “percentage of sequence identity. is at from about 25-30° C. to about 42°C., such as 25, 26, “substantially similar and “substantial identity”. A “refer 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41 and ence sequence' is at least 12 but frequently 15 to 18 and 42°C. The temperature may be altered and higher tempera often at least 25 or above, such as 30 monomer units, tures used to replace formamide and/or to give alternative inclusive of nucleotides and amino acid residues, in length, stringency conditions. Alternative Stringency conditions examples include 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22. may be applied where necessary, such as medium strin 23, 24 and 25. Because two polynucleotides may each gency, which includes and encompasses from at least about comprise (1) a sequence (i.e. only a portion of the complete 16% w/v to at least about 30% V/v formamide, such as 16, 17, polynucleotide sequence) that is similar between the two 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29 and 30% and polynucleotides, and (2) a sequence that is divergent from at least about 0.5 M to at least about 0.9 M salt, such between the two polynucleotides, sequence comparisons as 0.5,0.6, 0.7, 0.8 and 0.9 M for hybridization, and at least between two (or more) polynucleotides are typically per about 0.5 M to at least about 0.9 M salt, such as 0.5,0.6,0.7, formed by comparing sequences of the two polynucleotides 0.8 and 0.9 M for washing conditions, or high stringency, over a “comparison window” to identify and compare local which includes and encompasses from at least about 31% regions of sequence similarity. A "comparison window' Viv to at least about 50% w/v formamide, such as 31, 32, 33, refers to a conceptual segment of typically 12 contiguous 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48, 49 residues that is compared to a reference sequence. The and 50% w/v formamide and from at least about 0.01 M to comparison window may comprise additions or deletions at least about 0.15 M salt, such as 0.01, 0.02, 0.03, 0.04, (i.e. gaps) of about 20% or less as compared to the reference 0.05, 0.06, 0.07, 0.08, 0.09, 0.10, 0.11, 0.12, 0.13, 0.14 and sequence (which does not comprise additions or deletions) 0.15 M for hybridization, and at least about 0.01 M to at least for optimal alignment of the two sequences. Optimal align about 0.15 M salt, such as 0.01, 0.02, 0.03, 0.04, 0.05, 0.06, ment of sequences for aligning a comparison window may 0.07, 0.08, 0.09, 0.10, 0.11, 0.12, 0.13, 0.14 and 0.15 M for be conducted by computerized implementations of algo washing conditions. In general, washing is carried out rithms (GAP, BESTFIT, FASTA, and TFASTA in the Wis T=69.3+0.41 (G+C)% (Marmur and Doty, J. Mol. Biol. 5: consin Genetics Software Package Release 7.0, Genetics 109, 1962). However, the T of a duplex DNA decreases by Computer Group, 575 Science Drive Madison, Wis., USA) 1°C. with every increase of 1% in the number of mismatch or by inspection and the best alignment (i.e. resulting in the base pairs (Bonner and Laskey, Eur: J. Biochem. 46: 83, highest percentage homology over the comparison window) 1974. Formamide is optional in these hybridization condi generated by any of the various methods selected. Reference tions. Accordingly, particularly preferred levels of strin also may be made to the BLAST family of programs as for gency are defined as follows: low stringency is 6xSSC example disclosed by Altschul et al. (Nucl. Acids Res. 25: buffer, 0.1% w/v SDS at 25-42°C.; a moderate stringency is 3389, 1997). A detailed discussion of sequence analysis can 2xSSC buffer, 0.1% w/v SDS at a temperature in the range be found in Unit 19.3 of Ausubel et al. (“Current Protocols 20° C. to 65° C.; high stringency is 0.1xSSC buffer, 0.1% in Molecular Biology” John Wiley & Sons Inc, 1994-1998, Chapter 15). w/v SDS at a temperature of at least 65° C. 0053. The terms “sequence similarity” and “sequence 0055. The nucleotide sequence or amino acid sequence of identity” as used herein refers to the extent that sequences CLK of the present invention may correspond to exactly the are identical or functionally or structurally similar on a same sequence of the naturally occurring CLK or its gene (or nucleotide-by-nucleotide basis or an amino acid-by-amino corresponding cDNA) or may carry one or more nucleotide acid basis over a window of comparison. Thus, a "percent or amino acid substitutions, additions and/or deletions. age of sequence identity, for example, is calculated by 0056. Any number of approaches may be employed to comparing two optimally aligned sequences over the win identify the ligand. Such as CLK. dow of comparison, determining the number of positions at which the identical nucleic acid base (e.g. A, T, C, G, I) or 0057. In one particularly useful method, a yeast two the identical amino acid residue (e.g. Ala, Pro, Ser. Thr, Gly, hybrid system is employed. The yeast two-hybrid system is Val, Leu, Ile, Phe, Tyr, Trp, Lys, Arg, His, Asp, Glu, ASn, an in Vivo genetic technique that can be utilized for the Gln, Cys and Met) occurs in both sequences to yield the identification of protein-protein interactions. The essence of number of matched positions, dividing the number of the two-hybrid system is that interaction between two pro matched positions by the total number of positions in the teins (X and Y) can be identified by reconstituting active window of comparison (i.e., the window size), and multi transcription factor dimers. In yeast, these dimers are formed plying the result by 100 to yield the percentage of sequence between two fusion proteins, one of which contains a DNA US 2007/01 35335 A1 Jun. 14, 2007 binding (DB) domain fused to the first protein of interest X 0065. The derivatives of a CLK nucleic acid molecule, and the other, an activation domain (AD) fused to a second for example, include oligonucleotides, PCR primers, anti protein Y. Interaction between DB-X and AD-Y forms a sense molecules, molecules Suitable for use in co-suppres functional transcription factor that activates chromosomally sion and fusion nucleic acid molecules. Ribozymes and integrated-reporter genes driven by promoters containing DNA enzymes are also contemplated by the present inven the relevant DB binding sites. When a selectable marker tion directed to CLK DNA or mRNA. such as HIS3 is used as a reporter gene, two-hybrid depen dent transcription activation can be monitored by growth on 0066 Reference herein to a CLK as a Beacon ligand plates lacking histidine. This technique can, therefore, be includes reference to isolated or purified naturally occurring applied to test whether two known proteins interact or to CLK molecules as well as any derivatives, homologs, ana detect an unknown protein, encoded by a cDNA library, that logs and mimetics thereof. Derivatives includes parts, frag interacts with a protein of interest. ments and portions of the CLK as well as single and multiple amino acid Substitutions, deletions and/or additions to the 0.058 Accordingly, another aspect of the present inven Beacon partner. tion contemplates a method of identifying a ligand of the protein Beacon or its derivatives, said method comprising 0067. Other derivatives of CLK include chemical ana introducing a first genetic construct in a yeast strain, said logs. Analogs of a CLK contemplated herein include, but are genetic construct comprising a nucleotide sequence encod not limited to, modifications to side chains, incorporation of ing all or part of Beacon fused to a nucleotide sequence unnatural amino acids and/or their derivatives during pep encoding one of a DNA binding (DB) domain or an activa tide, polypeptide or protein synthesis and the use of tion domain (AD) and introducing a second genetic con crosslinkers and other methods which impose conforma struct into said yeast comprising a cDNA, said second tional constraints on the proteinaceous molecule or their genetic construct comprising elements of a cDNA library analogs. fused to a nucleotide sequence encoding the other of a DB 0068 Examples of side chain modifications contem domain or AD domain and selecting yeast cells which plated by the present invention include those listed in comprise both genetic constructs and in which a reporter International Patent Application No. PCT/AU98/00902 gene has been Subjected to two-hybrid dependent transcrip WO 99/23217 or U.S. Pat. No. 6,436,670 and which is tion. herein incorporated by reference which also include the 0059) According to this embodiment, if the cDNA from incorporation of unnatural amino acids. the cDNA library encodes a binding partner for Beacon, then 0069. The identification of a CLK as a Beacon ligand a dimer forms and the DB and AD domains permit tran permits the generation of a range of therapeutic molecules Scription of the reporter gene. capable of modulating expression of Beacon or CLK or 0060. In one embodiment, the yeast reporter gene is HIS3 modulating the activity of Beacon or CLK. Modulators although any other reporter gene may be employed. Prefer contemplated by the present invention includes agonists and ably, the reporter gene provides a selectable marker. antagonists of CLK expression. Antagonists of CLK gene expression include antisense molecules, ribozymes and co 0061. In a particularly preferred embodiment, the ligand Suppression molecules. Agonists include molecules which is a CLK and in particular human CLK1, CLK2 or CLK4 or increase promoter activity or which interfere with negative a homolog or derivative thereof. regulatory mechanisms. Antagonists of CLK include anti 0062) A homolog of human CLK is considered to be a bodies and inhibitor peptide fragments as well as Small CLK-like molecule from another animal species. The chemical molecule inhibitors. All such molecules may first present invention extends to the homolog CLK genes, as need to be modified to enable such molecules to penetrate determined by nucleotide sequence and/or function, from cell membranes. Alternatively, viral agents may be non-human primates, livestock animals (e.g. cows, sheep, employed to introduce genetic elements to modulate expres pigs, horses, donkeys, laboratory test animals (e.g. mice, sion of CLK. guinea pigs, hamsters, rabbits), companion animals (e.g. 0070 The present invention contemplates, therefore, a cats, dogs) and captured wild animals (e.g. rodents, foxes, method for modulating expression of CLK in a mammal, deer, kangaroo). However, the Subject invention extends to said method comprising contacting the Beacon ligand gene the use of a CLK from one animal interacting with a Beacon with an effective amount of a modulator of CLK expression from another species. for a time and under conditions Sufficient to up-regulate or 0063. Apart from the yeast two-hybrid method, the CLK down-regulate or otherwise modulate expression of CLK. of the present invention may also be identifiable by a number For example, a nucleic acid molecule encoding CLK or a of other means. In one method, Beacon or a ligand binding derivative or homolog thereof may be introduced into a cell portion thereof is labeled with a reporter molecule and used to enhance the ability of that cell to produce CLK. Con to screen cells, cell lysate and biological fluid (including versely, CLK antisense sequences Such as oligonucleotides blood, serum, lymph fluid) for binding to ligand. For cloning may be introduced to decrease the availability of CLK of Beacon ligand, a cDNA library is conveniently prepared molecules. and expressed in a suitable cell such as CHO cells and the 0071 Another aspect of the present invention contem presence of Beacon ligand is then determined by, for plates a method of modulating activity of Beacon in a example, Beacon or a ligand binding portion thereof labeled mammal, said method comprising administering to said with a reporter molecule. mammal a modulating effective amount of a soluble CLK or 0064. The present invention is directed to CLKs as a derivative thereof for a time and under conditions sufficient ligands from Beacon as well as derivatives of CLKs. to increase or decrease Beacon activity. The derivative of US 2007/01 35335 A1 Jun. 14, 2007

CLK may be a proteinaceous molecule or a chemical entity 0077. Derivatives of encoding Beacon, CLK or an Such as a product identified from a natural product library or antagonist or agonist include fragments, parts, portions, chemical library. Alternatively, derivatives of Beacon which mutants, variants and mimetics from natural, synthetic or are non-functional yet bind to CLK may also be effective. recombinant sources including fusion proteins. Parts or fragments include, for example, active regions of encoding 0072 One convenient means of screening for antagonists Beacon, CLK or an antagonist or agonist. Derivatives may of beacon ligand when in the form of a receptor is to be derived from insertion, deletion or substitution of amino incubate a cell carrying a Beacon ligand in the form of a acids. Amino acid insertional derivatives include amino receptor with Beacon with or without a potential antagonist and/or carboxylic terminal fusions as well as intrasequence and screening for a differential effect when the antagonist is insertions of single or multiple amino acids. Insertional applied. Again, the effect may be gene expression, signal amino acid sequence variants are those in which one or more transduction and/or phenotypic changes. amino acid residues are introduced into a predetermined site 0073 Modulating levels of CLK expression or CLK in the protein although random insertion is also possible activity or Beacon-like interaction is important in the treat with suitable screening of the resulting product. Deletional ment of a range of conditions such as obesity, anorexia, variants are characterized by the removal of one or more energy imbalance, diabetes, metabolic syndrome, dyslipi amino acids from the sequence. Substitutional amino acid demia, hypertension and insulin resistance. It may also be variants are those in which at least one residue in the useful in the agricultural industry to assist in the generation sequence has been removed and a different residue inserted of leaner animals, or where required, more obese animals. in its place. An example of Substitutional amino acid variants Accordingly, the mammal contemplated by the present are conservative amino acid Substitutions. Conservative invention includes but is not limited to humans, primates, amino acid Substitutions typically include Substitutions livestock animals (e.g. pigs, sheep, cows, horses, donkeys), within the following groups: glycine and alanine; Valine, laboratory test animals (e.g. mice, rats, guinea pigs, ham isoleucine and leucine; aspartic acid and glutamic acid; sters, rabbits), companion animals (e.g. dogs, cats) and asparagine and glutamine; serine and threonine; lysine and captured wild animals (e.g. foxes, kangaroos, deer). A par arginine; and phenylalanine and tyrosine. Additions to ticularly preferred host is a human, primate or livestock amino acid sequences include fusions with other peptides, animal. The present invention further extends to non-mam polypeptides or proteins. malian animals such as avian species including poultry birds 0078 Chemical and functional equivalents of encoding and game birds. Beacon, CLK or an antagonist or agonist should be under 0074 Accordingly, the present invention contemplates in stood as molecules exhibiting any one or more of the one embodiment a composition comprising a soluble form functional activities of these molecules and may be derived of CLK or a modulator of CLK gene expression and one or from any source Such as being chemically synthesized or more pharmaceutically acceptable carriers and/or diluents. identified via screening processes such as natural product The composition may alternatively comprise an antagonist Screening. or agonist of Beacon-CLK interaction. One such antagonist 0079 The derivatives include fragments having particu includes non-functional Beacon derivatives which bind to lar epitopes or parts of the entire protein fused to peptides, CLK. polypeptides or other proteinaceous or non-proteinaceous 0075) A homolog is considered to be a CLK or Beacon molecules. The term “protein’ in relation to Beacon, CLK or gene or protein from another species. The present invention an antagonist or agonist should be understood to encompass extends, however, to homologs, as determined by nucleotide peptides, polypeptides and proteins. The protein may be sequence and/or amino acid sequences and/or function, from glycosylated or unglycosylated and/or may contain a range primates, including humans, marmosets, orangutans and of other molecules fused, linked, bound or otherwise asso gorillas, livestock animals (e.g. cows, sheep, pigs, horses, ciated to the protein Such as amino acids, lipids, carbohy donkeys), laboratory test animals (e.g. mice, rats, guinea drates or other peptides, polypeptides or proteins. Reference pigs, hamsters, rabbits), companion animals (e.g. cats, dogs) hereinafter to a “protein’ includes a protein comprising a and captured wild animals (e.g. rodents, foxes, deer, kan sequence of amino acids as well as a protein associated with garoos). The present invention also contemplates deimmu other molecules Such as amino acids, lipids, carbohydrates nized forms of Beacon or CLK or of an antagonist or agnoist or other peptides, polypeptides or proteins. of Beacon/CLK interaction. In one preferred embodiment, the deimmunized form of the Beacon, CLK or an antagonist 0080. The nucleic acid molecule encoding Beacon, CLK or agnoist is a mamalianized form relative to a particular or an antagonist or agonist may be ligated to an expression target animal. In a most preferred embodiment where the vector capable of expression in a prokaryotic cell (e.g. E. target mammal is a human, the present invention contem coli) or a eukaryotic cell (e.g. yeast cells, fungal cells, insect plates use of a humanized form of a non-human Beacon, cells, mammalian cells or plant cells). The nucleic acid CLK or antagonist or agonist. molecule may be ligated or fused or otherwise associated with a nucleic acid molecule encoding another entity Such 0.076 The derivatives of nucleic acid molecules encoding as, for example, a signal peptide. It may also comprise Beacon, CLK or an antagonist or agonist of the present additional nucleotide sequence information fused, linked or invention include oligonucleotides, PCR primers, antisense otherwise associated with it either at the 3' or 5' terminal molecules, molecules Suitable for use in co-suppression (e.g. portions or at both the 3' and 5' terminal portions. The RNAi) and fusion nucleic acid molecules. Ribozymes and nucleic acid molecule may also be part of a vector, such as DNA enzymes are also contemplated by the present inven an expression vector. The latter embodiment facilitates pro tion directed to encoding Beacon, CLK or an antagonist or duction of recombinant forms of sphingosine kinase which agonist or its mRNA. forms are encompassed by the present invention. US 2007/01 35335 A1 Jun. 14, 2007

0081. Another aspect of the present invention contem of protein, magnesium, phosphorous, calcium and other plates a method of modulating activity of Beacon-CLK electrolytes, cardiac conduction defects (heart blocks) and interaction in a mammal, said method comprising adminis cardiomyopathy, hypoglycemia (low blood Sugar) and liver tering to said mammal a modulating effective amount of a failure, visual loss and blindness, hearing loss and deafness, molecule for a time and under conditions Sufficient to and diabetes and exocrine pancreatic failure (inability to increase or decrease Beacon or CLK or Beacon-CLK inter make digestive enzymes). action The molecule may be a proteinaceous molecule or a 0087. There may also be systemic problems associated chemical entity and may also be a derivative of Beacon or with mitochondrial dysfunction, including failure to gain CLK. weight, short stature, fatigue, respiratory problems. 0082) Accordingly, another aspect of the present inven tion relates to a method of treating a mammal Suffering from 0088 Mitochondrial defects have been linked to Alzhe a condition characterized by one or more symptoms of a a imer's, Parkinson's, diabetes, autism, and the aging process. healthy or unhealthy state, including the presence or absence Other disease associated with mitochondrial dysfunction of a disorder associated with myopathy, obesity, anorexia, include, LIC (Lethal Infantile Cardiomyopathy), Beta-oxi weight maintenance, diabetes, disorders associated with dation Defects, COX Deficiency, Mitochondrial Cytopathy, mitochondrial dysfunction, genetic disorders, cancer, heart Alpers Disease, Barth syndrome, Carnitine-Acyl-Carnitine disease, inflammation, disorders associated with the immune Deficiency, Carnitine Deficiency, Co-Enzyme Q10 Defi system, infertility, disease associated with the brain and/or ciency, Complex I Deficiency, Complex II Deficiency, Com metabolic energy levels comprising administering to said plex III Deficiency, Complex IV Deficiency, Complex V mammal an effective amount of an agent for a time and Deficiency, CPEO, CPT I Deficiency, Glutaric Aciduria under conditions sufficient to modulate interaction between Type II, KSS, lactic acidosis, LCAD, LCHAD, Leigh Dis Beacon and CLK. ease, LHON, Luft Disease, MAD, MCA, MELAS, MERRF, mitochondrial DNA depletion, Mitochondrial Encephalopa 0083. In another aspect, the present invention relates to a thy, MNGIE, NARP, Pearson Syndrome, Pyruvate Carboxy method of treating a mammal Suffering from a disease lase Deficiency, Pyruvate Dehydrogenase Deficiency, condition characterized by one or more symptoms of a SCAD, SCHAD and VLCAD. healthy or unhealthy state, including the presence or absence of a disorder associated with myopathy, obesity, anorexia, 0089 Alpers Disease, or Progressive Infantile Poliodys weight maintenance, diabetes, disorders associated with trophy, includes symptoms Such as seizures, dementia, spas mitochondrial dysfunction, genetic disorders, cancer, heart ticity, blindness, liver dysfunction, and cerebral degenera disease, inflammation, disorders associated with the immune tion. (Luft; The development of mitochondrial medicine. system, infertility, disease associated with the brain and/or Proceedings of the National Academy of sciences of the metabolic energy levels to said mammal an effective amount United States of America, 1994; 91 (19); 8731-8). of an antagonist or agonist of Beacon-CLK interaction. 0090 Barth syndrome or LIC (Lethal Infantile Cardi 0084 As used herein “myopathy' refers to any abnormal omyopathy) is an X-linked recessive disorder the symptoms conditions or disease of the muscle tissues, which include of which include skeletal myopathy, cardiomyopathy, short the muscles over our bones (skeletal muscle) and the heart stature, and neutropenia. (Christodoulou, Barth syndrome: (cardiac muscle). clinical observations and genetic linkage studies. American Journal of Medical Genetics, 1994: 50(3): 255-64). 0085 Mitochondrial dysfunction relates to abnormalities in mitochondria. Mitochondria are part of the cell 0091 Carnitine-Acyl-Carnitine Deficiency is an autoso (organelle) that is responsible for energy production. The mal recessive disorder, the symptoms of which are seizures, organelle consists of two sets of membranes, a Smooth apnea, bradycardia, vomiting, lethargy, coma, enlarged liver, continuous outer coat and an inner membrane arranged in limb weakness, myoglobin in the urine, Reye-like symptoms tubules or in folds that form plate-like double membranes triggered by fasting. (cristae). Mitochondria are the principal energy source of the 0092 Carnitine Deficiency is an autosomal recessive cell, containing the cytochrome enzymes of terminal elec disease, the symptoms of which include Cardiomyopathy, tron transport and the enzymes of the citric acid cycle, fatty failure to thrive and altered consciousness or coma, some acid oxidation, and oxidative phosphorylation. They are times hypotonia. responsible for converting nutrients into energy as well as many other specialized tasks. Mitochondria are complex 0093 Co-Enzyme Q10 Deficiency is most likely an auto organelles located in virtually all cells of the body. A large Somal recessive disease, the symptoms of which include degree of their complexity is due to the fact that over 1000 Encephalomyopathy, mental retardation, exercise intoler proteins are located in the mitochondria. Thirteen of these ance, ragged-red fibers, and recurrent myoglobin in the proteins are encoded by the mitochondrial DNA (mtDNA), U1. while the remainder are nuclear-encoded, and imported into 0094) Complex I Deficiency or NADH dehydrogenase the mitochondria. NADH-CoQ reductase) deficiency is an autosomal disease, 0086) Symptoms of mitochondrial dysfunction include the symptoms of which are classified by three major forms: weakness (which may be intermittent), neuropathic pain, (1) fatal infantile multisystem disorder, characterized by absent reflexes, gastrointestinal problem (gastroesophogeal developmental delay, muscle weakness, heart disease, con reflux, delayed gastric emptying, constipation, pseudo-ob genital lactic acidosis, and respiratory failure; (2) myopathy struction), fainting, absent or excessive Sweating resulting in beginning in childhood or in adult life, manifesting as temperature regulation problems, hypotonia, cramping and exercise intolerance or weakness. Elevated lactic acid com muscle pain, proximal renal tubular wasting resulting in loss mon; and (3) mitochondrial encephalomyopathy (including US 2007/01 35335 A1 Jun. 14, 2007

MELAS), which may begin in childhood or adult life and globin in the urine and in infants, Reye-like syndrome, consists of variable combinations of symptoms and signs, enlarged liver, hypoglycemia, enlarged heart and cardiac including ophthalmoplegia, seizures, dementia, ataxia, hear arrhythmia. ing loss, pigmentary retinopathy, sensory neuropathy, and 0.103 KSS or Kearns-Sayre Syndrome, in most cases is uncontrollable movements. In addition, this disorder may caused by large mitochondria DNA deletions. Symptoms cause Leigh Syndrome. associated with KSS include progressive external ophthal 0.095 Complex II Deficiency or Succinate dehydroge moplegia, pigmentary retinopathy, heart block, and high nase deficiency, the symptoms of which include encepha cerebrospinal protein. lomyopathy and various manifestations, including failure to 0.104 Lactic Acidosis is associated with the accumulation thrive, developmental delay, hyoptonia, lethargy, respiratory of lactic acid due to its production exceeding its use. Chronic failure, ataxia, myoclonus and lactic acidosis. May also lactic acidosis is a common symptom of mitochondrial cause Leigh Syndrome. disease. 0.096 Complex II Deficiency or Ubiquinone-cytochrome 0105 LCAD or Long-Chain Acyl-CoA Dehydrogenase c oxidoreductase deficiency, symptoms of which are catego Deficiency, is an autosomal recessive disorder, which causes rized in four major forms: (1) fatal infantile encephalomy a fatal syndrome, in infants, typified by failure to thrive, opathy, congenital lactic acidosis, hypotonia, dystrophic enlarged liver, enlarged heart, metabolicencephalopathy and posturing, seizures, and coma. Ragged-red fibers common; hypotonia. (2) encephalomyopathies of later onset (childhood to adult life): various combinations of weakness, short stature, 0106 LCHAD is an autosomal recessive disorder, char ataxia, dementia, hearing loss, sensory neuropathy, pigmen acterized by symptoms such as encephalopathy, liver dys tary retinopathy, and pyramidal signs. Ragged-red fibers function, cardiomyopathy, and myopathy. Also pigmentary common. Possible lactic acidosis; (3) myopathy, with exer retinopathy and peripheral neuropathy. cise intolerance evolving into fixed weakness. Ragged-red 0.107 Leigh Disease or Syndrome or Subacute Necrotiz fibers common. Possible lactic acidosis; and (4) infantile ing Encephalomyelopathy is characterized by symptoms histiocytoid cardiomyopathy. Such as Seizures, hypotonia, fatigue, nystagmus, poor 0097. Complex IV Deficiency or Cytochrome c oxidase reflexes, eating and Swallowing difficulties, breathing prob deficiency is caused by a defect in Complex IV of the lems and poor motor function. respiratory chain, the symptoms of which can be categorized 0108 LHON or Leber Hereditary Optic Neuropathy is in two major forms: (1) encephalomyopathy, which is typi caused by mitochondrial DNA point mutations, including cally normal for the first 6 to 12 months of life and then show G14459A, among others. Symptoms associated with LHON developmental regression, ataxia, lactic acidosis, optic atro include primarily blindness in young men. Less common phy, ophthalmoplegia, nystagmus, dystonia, pyramidal symptoms include mild dementia, ataxia, Spasticity, periph signs, respiratory problems and frequent seizures; and (2) eral neuropathy and heart conduction defects. myopathy: Two main variants: (a) Fatal infantile myopathy: 0.109 Luft Disease is characterized by symptoms such as may begin soon after birth and accompanied by hypotonia, hypermetabolism, with fever, heat intolerance, profuse per weakness, lactic acidosis, ragged-red fibers, respiratory fail spiration, polyphagia, polydipsia, ragged-red fibers, and ure, and kidney problems: and (b) Benign infantile myopa resting tachycardia. In addition to exercise intolerance with thy: may begin soon after birth and accompanied by hypo mild weakness. tonia, weakness, lactic acidosis, ragged-red fibers, respiratory problems, but (if the child survives) followed by 0110 MAD or Glutaric Aciduria Type II or multiple spontaneous improvement. Acyl-CoA Dehydrogenase Deficiency is caused by defects of the flavoproteins responsible for transferring electrons 0098 Complex V Deficiency or ATP synthase deficiency (ETF or ETF-dehydrogenase) therefore affecting the func includes symptoms Such as slow, progressive myopathy. tion of all six ETF-funneling acyl-CoA dehydrogenases 0099 CPEO or Chronic Progressive External Ophthal 0.111 MCAD or Medium-Chain Acyl-CoA Dehydroge moplegia Syndrome includes symptoms such as visual nase Deficiency is an autosomal recessive disorder, which myopathy, retinitis pigmentosa, dysfunction of the central afflicts infants or young children with episodes of encepha nervous system. lopathy, enlarged and fatty degeneration of the liver, and low carnitine in the blood. 0100. It is caused by single mitochondrial DNA dele tions, with Mitochondrial DNA point mutation, A3243G 0112 MELAS or Mitochondrial Encephalomyopathy being the most common (Luft; The development of mito Lactic Acidosis and Strokelike Episodes is caused by mito chondrial medicine. Review; Proceedings of the National chondrial DNA point mutations, the most common of which Academy of Sciences of the United States of America, 1994; is A3243G. It is characterized by symptoms: Short stature, 91 (19); 8731-8). seizures, stroke-like episodes with focused neurological deficits, recurrent headaches, cognitive regression, disease 0101 CPT I Deficiency is an autosomal recessive disease progression ragged-red fibers (Koo, et. al.; Mitochondrial and includes symptoms such as enlarged liver and recurrent encephalomyopathy, lactic acidosis, stroke-like episodes Reye-like episodes triggered by fasting or illnesses. (MELAS): clinical, radiological, pathological, and genetic 0102 CPT II Deficiency is an autosomal recessive dis observations; Annals of Neurology, 1993: 34(1); (25-32). ease, the symptoms of which include exercise intolerance, 0113 MERRF or Myoclonic Epilepsy and Ragged-Red fasting intolerance, muscle pain, muscle stiffness, and myo Fiber Disease is caused by the mitochondrial DNA point US 2007/01 35335 A1 Jun. 14, 2007

mutations A8344G and T8356C. Its symptoms include myo A-V. A Beta-2-Microglobulin Amyloidosis, A-T. A1AD, clonus, epilepsy, progressive ataxia, muscle weakness and A1AT, Aagenaes, Aarskog syndrome, Aarskog-Scott Syn degeneration, deafness and dementia (Luft; The develop drome, Aase-Smith syndrome, Aase Syndrome, AAT, Abder ment of mitochondrial medicine; Proceedings of the halden-Kaufmann-Lignac Syndrome, Abdominal Muscle National Academy of Sciences of the United States of Deficiency Syndrome, Abdominal Wall Defect, Abdominal America, 1994; 91 (19); 8731-8). Epilepsy, Abdominal Migraine, Abductor Spasmodic Dys 0114. There are three forms of mitochondrial DNA phonia, Abductor Spastic Dysphonia, Abercrombie Syn Depletion. These include: (1) congenital myopathy: Neona drome, blepharon-Macrostomia Syndrome, ABS, Absence tal weakness, hypotonia requiring assisted ventilation, pos of HPRT. Absence of Corpus Callosum Schinzel Typ, sible renal dysfunction. Severe lactic acidosis. Prominent Absence Defect of Limbs Scalp and Skull, Absence of ragged-red fibers. Death due to respiratory failure usually Menstruation Primar, Absence of HGPRT. Absorptive occurs prior to one year of age; (2) infantile myopathy: Hyperoxaluriaor Enteric, Abt-Letterer-Siwe Disease, Following normal early development until one year old, ACADL, ACADM Deficiency, ACADM, ACADS, Acan weakness appears and worsens rapidly, causing respiratory thocytosis-Neurologic Disorder, Acanthocytosis, Acantholy failure and death typically within a few years; and (3) sis Bullosa, Acanthosis Nigricans, Acanthosis Bullosa, hepatopathy, enlarged liver and intractable liver failure, Acanthosis Nigricans With Insulin Resistance Type A, Acan myopathy. Severe lactic acidosis. Death is typical within the thosis Nigricans With Insulin Resistance Type B, Acanthotic first year. Nevus, Acatalasemia, Acatalasia, ACC. Accessory Atrioven 0115 Mitochondrial Encephalopathy also includes tricular Pathways, Acephaly, ACF with Cardiac Defects, Encephalomyopathy and Encephalomyelopathy. Achalasia, Achard-Thiers Syndrome, ACHARD (Marfan variant), Achard's syndrome, Acholuric Jaundice, Achon 0116 MNGIE or Myoneurogastrointestinal Disorder and drogenesis, Achondrogenesis Type IV. Achondrogenesis Encephalopathy, include symptoms such as progressive Type III, Achondroplasia, Achondroplasia Tarda, Achondro external ophthalmoplegia, limb weakness, peripheral neur plastic Dwarfism, Achoo Syndrome, Achromat, Achro opathy, digestive tract disorders, leukodystrophy, lactic aci matope, Achromatopic, Achromatopsia, Achromic Nevi, dosis and ragged red fibers. Acid Ceramidase Deficiency, Acid Maltase Deficiency, Acid Beta-glucosidase Deficiency, Acidemia Methylmalonic, 0117 NARP or Neuropathy, Ataxia, and Retinitis Pig Acidemia Propionic, Acidemia with Episodic Ataxia and mentosa is caused by mitochondrial DNA point mutations in Weakness, Acidosis, Aclasis Tarsoepiphyseal, ACM, Acous genes associated with Complex V, including T8993G, (also tic Neurilemoma, Acoustic Neuroma, ACPS with Leg Hypo T8993C by some researchers). Leigh Syndrome may result plasia, ACPS II, ACPS IV, ACPS III, Acquired Aphasia with if the percentage of mutation is high enough. Convulsive Disorder, Acquired Brown Syndrome, Acquired 0118 Pearson Syndrome is characterized by symptoms Epileptic Aphasia, Acquired Factor XIII Deficiency, associated with bone marrow and pancreas dysfunction. It is Acquired Form of ACC (caused by infection while still in caused by single mitochondrial DNA deletions. Inheritance womb), Acquired Hyperoxaluria, Acquired Hypogamma is usually sporadic. Those who survive infancy usually globulinemia, Acquired Immunodeficiency Syndrome develop Kearns-Sayre Syndrome. Pyruvate Carboxylase (AIDS), Acquired Iron Overload, Acquired Lipodystrophy, Deficiency is an autosomal recessive disorder, the symptoms Acquired Partial Lipodystrophy, Acquired Wandering of which include lactic acidosis, hypoglycemia, severe retar Spleen, ACR, Acral Dysostosis with Facial and Genital dation, failure to thrive, in addition to seizures and spasticity. Abnormalities, Acro Renal, Acrocallosal Syndrome Schin Zel Type, AcrocephaloSyndactyly, AcrocephaloSyndactyly 0119 Pyruvate Dehydrogenase Deficiency is character Type I, Acrocephalosyndactyly Type I Subtype I, Acro ized by symptoms such as lactic acidosis, ataxia, pyruvic cephalopolysyndactyly Type II. Acrocephalopolysyndactyly acidosis, spinal and cerebellar degeneration. Less common Type III, Acrocephalopolysyndactyly Type IV. Acrocepha symptoms include agenesis of the corpus callosum and losyndactyly V (ACS5 or ACS V) Subtype I, Acrocephaly lesions in the basal ganglia, cerebellum, and brain stem, Skull Asymmetry and Mild Syndactyly, Acrocephaly, Acro growth delay, hypotonia, seizures and polyneuropathy. chondrohyperplasia, Acrodermatitis Enteropathica, Acrody 0120 SCAD or Short-Chain Acyl-CoA Dehydrogenase sostosis, Acrodystrophic Neuropathy, Acrodystrophic Neu Deficiency, is an autosomal recessive disorder characterized ropathy, Acrofacial Dysostosis Nager Type, Acrofacial by symptoms such as failure to thrive, developmental delay Dysostosis Nager Type, Acrofacial Dysostosis Postaxial and hypoglycemia. Type, Acrofacial Dysostosis Type Genee-Wiedep, Acrogeria Familial, Acromegaly, Acromelalgia Hereditary, Acrome 0121 SCHAD is an autosomal recessive disorder, char somelic Dysplasia, Acromesomelic Dwarfism, Acromicric acterized by encephalopathy and possibly liver disease or Skeletal Dysplasia, Acromicric Dysplasia, Acroosteolysis cardiomyopathy. with Osteoporosis and Changes in Skull and Mandible, 0122. VLCAD or Very Long-Chain Acyl-CoA Dehydro Acroosteolysis, Acroparesthesia, ACS I, ACS Type II, ACS genase Deficiency is an autosomal recessive disorder, char Type III, ACS, ACS3, ACTH Deficiency, Action Myoclo nus, Acute Brachial Neuritis Syndrome, Acute Brachial acterized by various manifestations, ranging from fatal Radiculitis Syndrome, Acute Cerebral Gaucher Disease, infantile encephalopathy to recurrent myoglobin in the Acute Cholangitis, Acute Disseminated Encephalomyelora urine, similar to the myopathic form of CPT II deficiency. diculopathy, Acute Disseminated Histiocytosis-X, Acute 0123. In addition, other diseases and disorders which can Hemorrhagic Polioencephalitis, Acute Idiopathic Polyneu be treated using the methods of the present invention ritis, Acute Immune-Mediation Polyneuritis, Acute Infantile include, without being limited to, A-Beta-Lipoproteinemia, Pelizaeus-Merzbacher Brain Sclerosis, Acute Intermittant US 2007/01 35335 A1 Jun. 14, 2007

Porphyria, Acute Porphyrias, Acute Sarcoidosis, Acute prosencephaly, Alopecia Areata, Alopecia Celsi, Alopecia Shoulder Neuritis, Acute Toxic Epidermolysis, Acyl-CoA Cicatrisata, Alopecia Circumscripta, Alopecia-Poliosis Dehydrogenase Deficiency Long-Chain, Acyl-CoA Dehy Uveitis-Vitiligo-Deafness-Cutaneous-Uveo-O, Alopecia drogenase Deficiency Short-Chain, Acyl-CoA Dihydroxy Seminuniversalis, Alopecia Totalis, Alopecia Universalis, acetone Acyltransferase, Acyl-coenzyme A Oxidase Defi Alpers Disease, Alpers Diffuse Degeneration of Cerebral ciency, ADA, ADA Deficiency, Adam Complex, Gray Matter with Hepatic Cirrhosis, Alpers Progressive Adamantiades-Behcet’s Syndrome, Adamantinoma, Adams Infantile Poliodystrophy, Alpha-1-Antitrypsin Deficiency, Oliver Syndrome, Adaptive Colitis, ADD combined type, Alpha-1 4 Glucosidase Deficiency, Alpha-Galactosidase A ADD, Addison Disease with Cerebral Sclerosis, Addison's Deficiency, Alpha-Galactosidase B Deficiency, Alpha High Anemia, Addison's Disease, Addison-Biermer Anemia, Density Lipoprotein Deficieny, Alpha-L-Fucosidase Defi Addison-Schilder Disease, Addisonian Pernicious Anemia, ciency Fucosidosis Type 3, Alpha-GalNAc Deficiency Addisonian Pernicious Anemia, Adducted Thumbs-Mental Schindler Type, Alphalipoproteinemia, Alpha Mannosido Retardation, Adductor Spasmodic Dysphonia, Adductor sis, Alpha-N-Acetylgalactosaminidase Deficiency Schindler Spastic Dysphonia, Adenoma Associated Virilism of Older Type, Alpha-NAGA Deficiency Schindler Type, Alpha Women, Adenomatosis of the Colon and Rectum, Adenoma Neuraminidase Deficiency, Alpha-Thalassemia/mental tous polyposis of the Colon, Adenomatous Polyposis Famil retardation Syndorme non-deletion type, Alphalipoproteine ial, Adenosine Deaminase Deficiency, AdenyloSuccinase mia, Alport Syndrome, ALS, Alstroem’s Syndrome, deficiency, ADHD predominantly hyperactive-impulsive Alstroem, Alstrom Syndrome. Alternating Hemiplegia Syn type, ADHD predominantly inattentive type, ADHD, Adhe drome. Alternating Hemiplegia of Childhood, Alzheimer's sive Arachnoiditis, Adie Syndrome, Adie's Syndrome, Disease, Amaurotic Familial Idiocy, Amaurotic Familial Adie's Tonic Pupil, Adie's Pupil, Adipogenital Retinitis Idiocy Adult, Amaurotic Familial Infantile Idiocy, Ambigu Pigmentosa Polydactyly, Adipogenital-Retinitis Pigmentosa ous Genitalia, AMC, AMD, Ameloblastoma, Amelogenesis Syndrome, Adiposa Dolorosa, Adiposis Dolorosa, Adi Imperfecta, Amenorrhea-Galactorrhea Nonpuerperal, posogenital Dystrophy, Adolescent Cystinosis, ADPKD, Amenorrhea-Galactorrhea-FSH Decrease Syndrome, Amen Adrenal Cortex Adenoma, Adrenal Disease, Adrenal Hyper orrhea, Amino Acid Disorders, Aminoaciduria-Osteomala function resulting from Pituitary ACTH Excess, Adrenal cia-Hyperphosphaturia Syndrome, AMN, Amniocentesis, Hypoplasia, Adrenal Insufficiency, Adrenal Neoplasm, Amniotic Band Syndrome, Amniotic Band Disruption Com Adrenal Virilism, Adreno-Retinitis Pigmentosa-Polydactyly plex, Amniotic Band Sequence, Amniotic Rupture Syndrome, Adrenocortical Insufficiency, Adrenocortical Sequence, Amputation Congenital, AMS, Amsterdam Dwarf Hypofunction, Adrenocorticotropic Hormone Deficiency Syndrome de Lange, Amylo-1 6-Glucosidase Deficiency, Isolated, Adrenogenital Syndrome, Adrenoleukodystrophy, Amyloid Arthropathy of Chronic Hemodialysis, Amyloid Adrenomyeloneuropathy, Adreno-Retinitis Pigmentosa Corneal Dystrophy, Amyloid Polyneuropathy, Amyloidosis, Polydactyly Syndrome, Adult Cystinosis, Adult Dermato Amyloidosis of Familial Mediterranean Fever, Amylopecti myositis, Adult Hypophosphatasia, Adult Macula Lutea nosis, Amyoplasia Congenita, Amyotrophic Lateral Sclero Retinae Degeneration, Adult Onset ALD, Adult-Onset sis, Amyotrophic Lateral Sclerosis-Polyglucosan Bodies, Ceroidosis, Adult Onset Medullary Cystic Disease. Adult AN, AN 1, AN 2, Anal Atresia, Anal Membrane, Anal Rectal Onset Pernicious Anemia, Adult Onset Schindler Disease, Malformations, Anal Stenosis, Analine 60 Amyloidosis, Adult-Onset Subacute Necrotizing Encephalomyelopathy, Analphalipoproteinemia, Analrectal, Anaplastic Astrocy Adult Onset Pernicious Anemia, Adult Polycystic Kidney toma, Andersen Disease, Anderson-Fabry Disease, Ander Disease, Adult Onset Medullary Cystic Disease, Adynlosuc Sen Glycogenosis, Anderson-Warburg Syndrome, Andre cinate Lyase Deficiency, AE, AEC Syndrome, AFD, Afi Syndrome, Andre Syndrome Type II, Androgen Insensitiv brinogenemia, African Siderosis, AGA, Aganglionic Mega ity, Androgen Insensitivity Syndrome Partial, Androgen colon, Age Related Macular Degeneration, Agenesis of Insensitivity Syndrome, Anemia Autoimmune Hemolytic, Commissura Magna Cerebri, Agenesis of Corpus Callosum, Anemia Blackfan Diamond, Anemia, Congenital, Tripha Agenesis of Corpus Callosum-Infantile Spasms-Ocular langeal Thumb Syndrome, Anemia Hemolytic Cold Anti Anomalies, Agenesis of Corpus Callosum and Chorioretinal body, Anemia Hemolytic with PGK Deficiency, Anemia Abnormality, Agenesis of Corpus Callosum-Chorioretinitis Pernicious, Anencephaly, Angelman Syndrome, Angio-OS Abnormality, Aggressive mastocytosis, Agnosis Primary, teohypertrophy Syndrome, Angiofollicular Lymph Node AGRTriad, AGU, Agyria, Agyria-pachygria-band spectrum, Hyperplasia, Angiohemophilia, Angiokeratoma Corporis, AHC, AHD, AHDS, AHF Deficiency, AHG Deficiency, Angiokeratoma Corporis Diffusum, Angiokeratoma Diffuse, AHO, Ahumada Del Castillo, Aicardi Syndrome, AIED, Angiomatosis Retina, Angiomatous Lymphoid, Angion AIMP, AIP. AIS, Akinetic Seizure, ALA-D Porphyria, Alac eurotic Edema Hereditary, Anhidrotic Ectodermal Dyspla tasia, Alagille Syndrome, Aland Island Eye Disease sia, Anhidrotic X-Linked Ectodermal Dysplasias, Aniridia, (X-Linked), Alaninuria, Albers-Schonberg Disease, Albi Aniridia-Ambiguous Genitalia-Mental Retardation, Aniridia nism, Albinismus, Albinoidism, Albright Hereditary Osteod Associated with Mental Retardation, Aniridia-Cerebellar ystrophy, Alcaptonuria, Alcohol-Related Birth Defects, Ataxia-Mental Deficiency, Aniridia Partial-Cerebellar Alcoholic Embryopathy, ALD, Aldosterone, Aldosteronism Ataxia-Mental Retardation, Aniridia Partial-Cerebellar With Normal Blood Pressure, Aldrich Syndrome, Alex Ataxia-Oligophrenia, Aniridia Type I, Aniridia Type II, ander's Disease, Algodystrophy, Algoneurodystrophy, Aniridia-Wilms Tumor Association, Aniridia-Wilms Alkaptonuria, Alkaptonuric Ochronosis, Alkyl DHAP syn Tumor-Gonadoblastoma, Ankyloblepharon-Ectodermal thase deficiency, Allan-Herndon-Dudley Syndrome, Allan Defects-Cleft Lip/Palate, Ankylosing Spondylitis, Annular Herndon Syndrome, Allan-Herndon-Dudley Mental Retar groves, Anodontia, Anodontia Vera, Anomalous Trichro dation, Allergic Granulomatous Antitis, Allergic masy, Anomalous Dysplasia of Dentin, Coronal Dentin Granulomatous Angiitis of Cronkhite-Canada, Alobar Holo Dysplasia, Anomic Aphasia, Anophthalmia, Anosmia, Ante US 2007/01 35335 A1 Jun. 14, 2007

rior Bowing of the Legs with Dwarfism, Anterior Membrane titis, Autoimmune-Polyendocrinopathy-Candidias, Autoim Corneal Dystrophy, Anti-Convulsant Syndrome, Anti-Ep mune Polyglandular Disease Type I, Autosomal Dominant stein-Barr Virus Nuclear Antigen (EBNA) Antibody Defi Albinism, Autosomal Dominant Compelling Heliooph ciency, Antibody Deficiency, Antibody Deficiency with near thalmic Outburst Syndrome, Autosomal Dominant Desmin normal Immunoglobulins, Antihemophilic Factor Defi Distal myopathy with Late Onset, Autosomal Dominant ciency, Antihemophilic Globulin Deficiency, Antiphospho EDS, Autosomal Dominant Emery-Dreifuss Muscular Dys lipid Syndrome, Antiphospholipid Antibody Syndrome, trophy, Autosomal Dominant Keratoconus, Autosomal Antithrombin III Deficiency, Antithrombin III Deficiency Dominant Pelizaeus-Merzbacher Brain Sclerosis, Autoso Classical (Type I), Antitrypsin Deficiency, Antley-Bixler mal Dominant Polycystic Kidney Disease, Autosomal Syndrome, Antoni’s Palsy, Anxietas Tibialis, Aorta Arch Dominant Spinocerebellar Degeneration, Autosomal Reces Syndrome, Aortic and Mitral Atresia with Hypoplasic Left sive Agammaglobulinemia, Autosomal Recessive Centro Heart Syndrome, Aortic Stenosis, Aparoschisis, APC, nuclear myopathy, Autosomal Recessive Conradi-Huner APECED Syndrome, Apert Syndrome, Aperts, Aphasia, mann Syndrome, Autosomal Recessive EDS, Autosomal Aplasia Axialis Extracorticales Congenital, Aplasia Cutis Recessive Emery-Dreifuss Muscular Dystrophy, Autosomal Congenita, Aplasia Cutis Congenita with Terminal Trans Recessive Forms of Ocular Albinism, Autosomal Recessive verse Limb Defects, Aplastic Anemia, Aplastic Anemia with Inheritance Agenesis of Corpus Callosum, Autosomal Congenital Anomalies, APLS, Apnea, Appalachian Type Recessive Keratoconus, Autosomal Recessive Polycystic Amyloidosis, Apple Peel Syndrome, Apraxia, Apraxia Buc Kidney Disease, Autosomal Recessive Severe Combined cofacial, Apraxia Constructional, Apraxia Ideational, Immunodeficiency, AV, AVM, AVSD, AWTA, Axilla Apraxia Ideokinetic, Apraxia Ideomotor, Apraxia Motor, Abscess, AXonal Neuropathy Giant, Azorean Neurologic Apraxia Oculomotor, APS, Arachnitis, Arachnodactyly Con Disease, B-K Mole Syndrome, Babinski-Froelich Syn tractural Beals Type, Arachnodactyly, Arachnoid Cysts, drome. BADS, Baillarger's Syndrome, Balkan Disease, Arachnoiditis Ossificans, Arachnoiditis, Aran-Duchenne, Baller-Gerold Syndrome, Ballooning Mitral Valve, Balo Aran-Duchenne Muscular Atrophy, Aregenerative Anemia, Disease Concentric Sclerosis, Baltic Myoclonus Epilepsy, Arginase Deficiency, Argininemia, Arginino Succinase Defi Bannayan-Zonana syndrome (BZS), Bannayan-Riley-Ru ciency, Argininosuccinase Deficiency, Argininosuccinate valcaba syndrome, Banti’s Disease, Bardet-Biedl Syn Lyase Deficiency, Argininosuccinic Acid Lyase-ASL, drome, Bare Lymphocyte Syndrome, Barlow's syndrome, Argininosuccinic Acid Synthetase Deficiency, Argininosuc Barraquer-Simons Disease, Barrett Esophagus, Barrett cinic Aciduria, Argonz-Del Castillo Syndrome, Arhinen Ulcer, Barth syndrome, Bartter's Syndrome, Basal Cell cephaly, Armenian Syndrome, Arnold-Chiari Malformation, Nevus Syndrome, Basedow Disease, Bassen-Kornzweig Arnold-Chiari Syndrome, ARPKD, Arrhythmic Myoclonus, Syndrome, Batten Disease, Batten-Mayou Syndrome, Bat Arrhythmogenic Right Ventricular Dysplasia, Arteriohepatic ten-Spielmeyer-Vogt's Disease, Batten Turner Syndrome, Dysplasia, Arteriovenous Malformation, Arteriovenous Batten Turner Type Congenital myopathy, Batten-Vogt Syn Malformation of the Brain, Arteritis Giant Cell, Arthritis, drome, BBB Syndrome, BBBG Syndrome, BCKD Defi Arthritis Urethritica, Arthro-Dento-Osteodysplasia, Arthro ciency, BD, BDLS, BE, Beals Syndrome, Beals-Hecht Syn Ophthalmopathy, Arthrochalasis Multiplex Congenita, drome, Bean Syndrome, BEB, Bechterew Syndrome, Arthrogryposis Multiplex Congenita, Distal, Type IIA, Becker Disease. Becker Muscular Dystrophy, Becker ARVD, Arylsulfatase-B Deficiency, AS, ASA Deficiency, Nevus, Beckwith Wiedemann Syndrome. Beckwith-Syn Ascending Paralysis, ASD, Atrioseptal Defects, ASH, Ash drome, Begnez-Cesar's Syndrome, Behcet’s syndrome, ermans Syndrome, Ashkenazi Type Amyloidosis, ASL Defi Behcet’s Disease, Behr 1, Behr 2, Bell's Palsy, Benign ciency, Aspartylglucosaminuria, Asperger's Syndrome, Acanthosis Nigricans, Benign Astrocytoma, Benign Cranial Asperger's Type Autism, Asphyxiating Thoracic Dysplasia, Nerve Tumors, Benign Cystinosis, Benign Essential Ble Asplenia Syndrome, ASS Deficiency, Asthma, Astrocytoma pharospasm, Benign Essential Tremor, Benign Familial Grade I (Benign), Astrocytoma Grade II (Benign), Asym Hematuria, Benign Focal Amyotrophy, Benign Focal Amyo metric Crying Facies with Cardiac Defects, Asymmetrical trophy of ALS, Benign Hydrocephalus, Benign Hypermo septal hypertrophy, Asymptomatic Callosal Agenesis, AT, bility Syndrome, Benign Keratosis Nigricans, Benign Par AT III Deficiency, AT III Variant IA, ATIII Variant Ib, AT3, oxysmal Peritonitis, Benign Recurrent Hematuria, Benign Ataxia, Ataxia Telangiectasia, Ataxia with Lactic Acidosis Recurrent Intrahepatic Cholestasis, Benign Spinal Muscular Type II, Ataxia Cerebral Palsy, Ataxiadynamia, Ataxiophe Atrophy with Hypertrophy of the Calves, Benign Symmetri mia, ATD, Athetoid Cerebral Palsy, Atopic Eczema, Atresia cal Lipomatosis, Benign Tumors of the Central Nervous of Esophagus with or without Tracheoesophageal Fistula, System, Berardinelli-Seip Syndrome, Berger's Disease, Atrial Septal Defects, Atrial Septal Defect Primum, Atrial Beriberi, Berman Syndrome, Bernard-Horner Syndrome, and Septal and Small Ventricular Septal Defect, Atrial Bernard-Soulier Syndrome, Besnier Prurigo, Best Disease, Flutter, Atrial Fibrillation, Atriodigital Dysplasia, Atriosep Beta-Alanine-Pyruvate Aminotransferase, Beta-Galactosi tal Defects, Atrioventricular Block, Atrioventricular Canal dase Deficiency Morquio Syndrome, Beta-Glucuronidase Defect, Atrioventricular Septal Defect, Atrophia Bulborum Deficiency, Beta Oxidation Defects, Beta Thalassemia Hereditaria, Atrophic Beriberi, Atrophy Olivopontocerebel Major, Beta Thalassemia Minor, Betalipoprotein Deficiency, lar, Attention Deficit Hyperactivity Disorder, Attentuated Bethlem myopathy, Beuren Syndrome, BH4. Deficiency, Adenomatous Polyposis Coli, Atypical Amyloidosis, Atypi BH4 Deficiency, Biber-Haab-Dimmer Corneal Dystrophy, cal Hyperphenylalaninemia, Auditory Canal Atresia, Bicuspid Aortic Valve, Biedl-Bardet, Bifid Cranium, Bifunc Auriculotemporal Syndrome, Autism, Autism Asperger's tional Enzyme Deficiency, Bilateral Acoustic Neurofibro Type, Autism Dementia Ataxia and Loss of Purposeful Hand matosis, Bilateral Acoustic Neuroma, Bilateral Right-Sid Use, Autism Infantile Autism, Autoimmune Addison's Dis edness Sequence, Bilateral Renal Agenesis, Bilateral ease, Autoimmune Hemolytic Anemia, Autoimmune Hepa Temporal Lobe Disorder, Bilious Attacks, Bilirubin Glucu US 2007/01 35335 A1 Jun. 14, 2007 ronosyltransferase Deficiency Type I, Binder Syndrome, drome, Carbohydrate-Deficient Glycoprotein Syndrome Binswanger's Disease, Binswanger's Encephalopathy, Bio Type Ia, Carbohydrate-Induced Hyperlipemia, Carbohydrate tinidase deficiency, Bird-Headed Dwarfism Seckel Type, Intolerance of Glucose Galactose, Carbon Dioxide Acidosis, Bitemporal Forceps Marks Syndrome, Biventricular Fibro Carboxylase Deficiency Multiple, Cardiac-Limb Syndrome, sis, Bjornstad Syndrome, B-K Mole Syndrome, Black Cardio-auditory Syndrome, Cardioauditory Syndrome of Locks-Albinism-Deafness of Sensoneural Type (BADS), Jervell and and Lange-Nielsen, Cardiocutaneous Syndrome, Blackfan-Diamond Anemia, Blennorrheal Idiopathic Arthri Cardio-facial-cutaneous syndrome, Cardiofacial Syndrome tis, Blepharophimosis-Ptosis-Epicanthus Inversus Syn Cayler Type, Cardiomegalia Glycogenica Diffusa, Cardi drome, Blepharospasm, Blepharospasm Benign Essential, omyopathic Lentiginosis, Cardiomyopathy, Cardiomyopa Blepharospasm Oromandibular Dystonia, Blessig Cysts, thy Associated with Desmin Storage myopathy, Cardio BLFS, Blindness, Bloch-Siemens Incontinentia Pigmenti myopathy Due to Desmin Defect, Cardio myopathy-Neu Melanoblastosis Cutis Linearis, Bloch-Siemens-Sulzberger tropenia Syndrome, Cardio myopathy-Neutropenia Syn Syndrome, Bloch-Sulzberger Syndrome, Bloom Syndrome, drome Lethal Infantile Cardio myopathy, Cardiopathic Bloom-Torre-Mackacek Syndrome, Blue Rubber Bleb Amyloidosis, Cardiospasm, Cardocardiac Syndrome, Car Nevus, Blue Baby, Blue Diaper Syndrome, BMD, BOD, nitine-Acylcarnitine Translocase Deficiency, Carnitine Defi BOFS, Bone Tumor-Epidermoid Cyst-Polyposis, Bonnet ciency and Disorders, Carnitine Deficiency Primary, Car Dechaume-Blanc Syndrome, Bonnevie-Ulrich Syndrome, nitine Deficiency Secondary, Carnitine Deficiency Book Syndrome, BOR Syndrome. BOR.J. Borjeson Syn Secondary to MCAD Deficiency, Carnitine Deficiency Syn drome, Borjeson-Forssman-Lehmann Syndrome, Bowen drome, Carnitine Palmitoyl Transferase I & II (CPT I & II), Syndrome, Bowen-Conradi Syndrome, Bowen-Conradi Carnitine Palmitoyltransferase Deficiency, Carnitine Palmi Hutterite, Bowen-Conradi Type Hutterite Syndrome, Bow toyltransferase Deficiency Type 1, Carnitine Palmitoyltrans man's Layer, BPEI, BPES, Brachial Neuritis, Brachial Neu ferase Deficiency Type 2 benign classical muscular form ritis Syndrome, Brachial Plexus Neuritis, Brachial-Plexus included severe infantile form included, Carnitine Transport Neuropathy, Brachiocephalic Ischemia, Brachmann-de Defect (Primary Carnitine Deficiency), Carnosinase Defi Lange Syndrome, Brachycephaly, Brachymorphic Type ciency, Carnosinemia, Caroli Disease, Carpenter syndrome, Congenital, Bradycardia, Brain Tumors, Brain Tumors Carpenters, Cartilage-Hair Hypoplasia, Cartilage-Hair Benign, Brain Tumors Malignant, Branched Chain Alpha Hypoplasia, Castleman's Disease, Castleman's Disease Ketoacid Dehydrogenase Deficiency, Branched Chain Keto Hyaline Vascular Type, Castleman's Disease Plasma Cell nuria I, Brancher Deficiency, Branchio-Oculo-Facial Syn Type, Castleman Tumor, Cat Eye Syndrome, Cat's Cry drome, Branchio-Oto-Renal Dysplasia, Branchio-Oto-Renal Syndrome, Catalayse deficiency, Cataract-Dental Syn Syndrome, Branchiooculofacial Syndrome, Branchiootic drome, Cataract X-Linked with Hutchinsonian Teeth, Cat Syndrome, Brandt Syndrome, Brandywine Type Dentino echolamine hormones, Catel-Manzke Syndrome, Catel genesis Imperfecta, Breast Cancer, BRIC Syndrome, Brittle Manzke Type Palatodigital Syndrome, Caudal Dysplasia, Bone Disease, Broad Beta Disease, Broad Thumb Syn Caudal Dysplasia Sequence, Caudal Regression Syndrome, drome, Broad Thumbs and Great Toes Characteristic Facies Causalgia Syndrome Major, Cavernomas, Cavernous and Mental Retardation, Broad Thumb-Hallux, Broca's Angioma, Cavernous Hemangioma, Cavernous Lymphan Aphasia, Brocq-Duhring Disease, Bronze Diabetes, Bronze gioma, Cavernous Malformations, Cayler Syndrome, Schilder's Disease, Brown Albinism, Brown Enamel Cazenave's Vitiligo, CBGD, CBPS, CCA, CCD, CCD, Hereditary, Brown-Sequard Syndrome, Brown Syndrome, CCHS, CCM Syndrome, CCMS, CCO, CD, CDG 1a, BRRS, Brueghel Syndrome, Bruton’s Agammaglobuline CDG1A, CDGS Type Ia, CDI, CdLS, Celiac Disease, Celiac mia Common, BS, BSS, Buchanan’s Syndrome, Budd's sprue, Celiac Sprue-Dermatitis, Cellelar Immunodeficiency Syndrome, Budd-Chiari Syndrome, Buerger-Gruetz Syn with Purine Nucleoside Phosphorylase Deficiency, Celsus' drome, Bulbospinal Muscular Atrophy-X-linked, Bulldog Vitiligo, Central Apnea, Central Core Disease, Central Core Syndrome, Bullosa Hereditaria, Bullous CIE, Bullous Con Disease, Central Diabetes Insipidus, Central Form Neurofi genital Ichthyosiform Erythroderma, Bullous Ichthyosis, bromatosis, Central Hypoventilation, Central Sleep Apnea, Bullous Pemphigoid, Burkitt's Lymphoma, Burkitt's Lym Centrifugal Lipodystrophy, Centronuclear myopathy, CEP. phoma African type, Burkitt's Lymphoma Non-african type, Cephalocele, Cephalothoracic Lipodystrophy, Ceramide BWS, Byler's Disease, C Syndrome, C1 Esterase Inhibitor Trihexosidase Deficiency, Cerebellar Agenesis, Cerebellar Dysfunction Type II Angioedema, C1-INH, C1 Esterase Aplasia, Cerebellar Hemiagenesis, Cerebellar Hypoplasia, Inhibitor Deficiency Type I Angioedema, C1 NH, Cacchi Cerebellar Vermis Aplasia, Cerebellar Vermis Agenesis Ricci Disease, CAD, CADASIL, CAH, Calcaneal Valgus, Hypernea-Episodic Eye Moves-Ataxia-Retardation, Cer Calcaneovalgus, Calcium Pyrophosphate Dihydrate Depos ebellar Syndrome, Cerebellarparenchymal Disorder IV. Cer its, Callosal Agenesis and Ocular Abnormalities, Calves ebellomedullary Malformation Syndrome, Cerebello Hypertrophy of Spinal Muscular Atrophy, Campomelic Dys Oculocutaneous Telangiectasia, Cerebelloparenchymal plasia, Campomelic Dwarfism, Campomelic Syndrome, Disorder IV Familial, Cerebellopontine Angle Tumor, Cere Camptodactyly-Cleft Palate-Clubfoot, Camptodactyly-Lim bral Arachnoiditis, Cerebral Autosomal Dominant Arteri ited Jaw Excursion, Camptomelic Dwarfism, Camptomelic opathy with Subcortical Infarcts and Leukodystrophy, Cere Syndrome, Camptomelic Syndrome Long-Limb Type, bral Beriberi, Cerebral Diplegia, Cerebral Gigantism, Camurati-Engelmann Disease, Canada-Cronkhite Disease, Cerebral Malformations Vascular, Cerebral Palsy, Cerebro Canavan disease, Canavan's Disease Included, Canavan's Oculorenal Dystrophy, Cerebro-Oculo-Facio-Skeletal Syn Leukodystrophy, Cancer, Cancer Family Syndrome Lynch drome, Cerebrocostomandibular syndrome, Cerebrohepato Type, Cantrell Syndrome, Cantrell-Haller-Ravich Syn renal Syndrome, Cerebromacular Degeneration, drome, Cantrell Pentalogy, Carbamyl Phosphate Synthetase Cerebromuscular Dystrophy Fukuyama Type, Cerebroocu Deficiency, Carbohydrate Deficient Glycoprotein Syn lar Dysgenesis, Cerebroocular Dysplasia-Muscular Dystro US 2007/01 35335 A1 Jun. 14, 2007

phy Syndrome, Cerebrooculofacioskeletal Syndrome, Cere Chromosome 4 Trisomy 4p, Chromosome 4 XY/47 XXY broretinal Arteriovenous Aneurysm, Cerebroside Lipidosis, (Mosiac), Chromosome 5 Monosomy 5p, Chromosome 5, Cerebrosidosis, Cerebrotendinous Xanthomatosis, Cere Partial Deletion of the Short Arm Syndrome, Chromosome brovascular Ferrocalcinosis, Ceroid-Lipofuscinosis Adult 5 Trisomy 5p, Chromosome 5 Trisomy 5p Complete (5p11 form, Cervical Dystonia, Cervical Dystonia, Cervico-Oculo pter), Chromosome 5 Trisomy 5p Partial (5 p.13 or 14-pter), Acoustic Syndrome, Cervical Spinal Stenosis, Cervical Ver Chromosome 5p-Syndrome, Chromosome 6 Partial Trisomy tebral Fusion, CES, CF, CFC syndrome, CFIDS, CFND, 6q, Chromosome 6 Ring, Chromosome 6 Trisomy 6q2. CGD, CGF, CGF. Chalasodermia Generalized, Chanarin Chromosome 7 Monosomy 7p2, Chromosome 7 Partial Dorfman Disease, Chanarin Dorfman Syndrome, Chanarin Deletion of Short Arm (7p2-), Chromosome 7 Terminal 7p Dorfman Ichthyosis Syndrome, Chandler's Syndrome, Deletion del (7) (p21-p22), Chromosome 8 Monosomy Charcot's Disease, Charcot-Marie-Tooth, Charcot-Marie 8p2, Chromosome 8 Monosomy 8p21-pter, Chromosome 8 Tooth Disease, Charcot-Marie-Tooth Disease Variant, Char Partial Deletion (short arm), Chromosome 8 Partial Mono cot-Marie-Tooth-Roussy-Levy Disease, CHARGE Associa somy 8p2, Chromosome 9 Complete Trisomy 9P, Chromo tion, CHARGE Syndrome, Chaund's Ectodermal some 9 Partial Deletion of Short Arm, Chromosome 9 Partial Dysplasias, Chediak-Higashi Syndrome, Chediak-Stein Monosomy 9p, Chromosome 9 Partial Monosomy 9p22. brinck-Higashi Syndrome, Cheilitis Granulomatosa, Chromosome 9 Partial Monosomy 9p22-pter, Chromosome Cheiloschisis, Chemke Syndrome, Cheney Syndrome, 9 Partial Trisomy 9P Included, Chromosome 9 Ring, Chro Cherry Red Spot and Myoclonus Syndrome, CHF, CHH, mosome 9 Tetrasomy 9p, Chromosome 9 Tetrasomy 9p Chiari’s Disease, Chiari Malformation I, Chiari Type II Mosaicism, Chromosome 9 Trisomy 9p. (Multiple Variants), (Chiari Malformation II), Chiari I Syndrome, Chiari-Budd Chromosome 9 Trisomy 9 (pter-p21 to q32) Included, Chro Syndrome, Chiari-Frommel Syndrome, Chiari Malforma mosome 9 Trisomy Mosaic, Chromosome 9 Trisomy tion II, CHILD Syndrome, CHILD Ichthyosis Syndrome, Mosaic, Chromosome 10 Distal Trisomy 10q, Chromosome CHILD Syndrome Ichthyosis, Childhood Adrenoleukodys 10 Monosomy, Chromosome 10 Monosomy 10p, Chromo trophy, Childhood Dermatomyositis, Childhood-onset Dys some 10, Partial Deletion (short arm), Choromsome 10, tonia, Childhood Cyclic Vomiting, Childhood Giant Axonal 10p-Partial, Chromosome 10 Partial Trisomy 10q24-qter, Neuropathy, Childhood Hypophasphatasia, Childhood Mus Chromosome 10 Trisomy 10q2, Partial Monosomy of Long cular Dystrophy, CHN, Cholestasis, Cholestasis Hereditary Arm of Chromosome 11, Chromosome 11 Partial Mono Norwegian Type, Cholestasis Intrahepatic, Cholestasis Neo somy 11q, Chromosome 11 Partial Trisomy, Chromosome natal, Cholestasis of Oral Contraceptive Users, Cholestasis 11 Partial Trisomy 11q13-qter, Chromosome 11 Partial with Peripheral Pulmonary Stenosis, Cholestasis of Preg Trisomy 11q21-qter, Chromosome 11 Partial Trisomy nancy, Cholesterol Desmolase Deficiency, Chondrodyspla 11q23-qter, Chromosome 11q, Partial Trisomy, Chromo sia Punctata, Chondrodystrophia Calcificans Congenita, some 12 Isochromosome 12p Mosaic, Chromosome 13 Chondrodystrophia Fetalis, Chondrodystrophic Myotonia, Partial Monosomy 13q, Chromosome 13, Partial Monosomy Chondrodystrophy, Chondrodystrophy with Clubfeet, Chon of the Long Arm, Chromosome 14 Ring, Chromosome 14 drodystrophy Epiphyseal, Chondrodystrophy Hyperplastic Trisomy, Chromosome 15 Distal Trisomy 15q, Chromosome Form, Chondroectodermal Dysplasias, Chondrogenesis r15, Chromosome 15 Ring, Chromosome 15 Trisomy 15q2. Imperfecta, Chondrohystrophia, Chondroosteodystrophy, Chromosome 15q Partial Duplication Syndrome, Chromo Choreoacanthocytosis, Chorionic Villi Sampling, Chori some 17 Interstitial Deletion 17p, Chromosome 18 Long oretinal Anomalies, Chorioretinal Anomalies with ACC, Arm Deletion Syndrome, Chromosome 18 Monosomy 18p. Chorireninal Coloboma-Joubert Syndrome, Choroidal Scle Chromosome 18 Monosomy 18Q, Chromosome 18 Ring, rosis, Choroideremia, Chotzen Syndrome, Chotzen Syn Chromosome 18 Tetrasomy 18p, Chromosome 18q-Syn drome, Christ-Siemens-Touraine Syndrome, Christ-Si drome, Chromosome 21 Mosaic 21 Syndrome, Chromo emans-Touraine Syndrome, Christmas Disease, Christmas Some 21 Ring, Chromosome 21 Translocation 21 Syndrome, Tree Syndrome, Chromosome 3 Deletion of Distal 3p, Chromosome 22 Inverted Duplication (22pter-22q11), Chromosome 3 Distal 3p Monosomy, Chromosome 3-Distal Chromosome 22 Partial Trisomy (22pter-22q11), Chromo 3q2 Duplication, Chromosome 3-Distal 3q2 Trisomy, Chro some 22 Ring, Chromosome 22 Trisomy Mosaic, Chromo mosome 3 Monosomy 3p2, Chromosome 3q Partial Dupli some 48 XXYY. Chromosome 48 XXXY, Chromosome r15, cation Syndrome, Chromosome 3q, Partial Trisomy Syn Chromosomal Triplication, Chromosome Triplication, drome, Chromosome 3-Trisomy 3q2, Chromosome 4 Chromosome Triploidy Syndrome, Chromosome X, Chro Deletion 4q31-qter Syndrome, Chromosome 4 Deletion mosome XXY. Chronic Acholuric Jaundice, Chronic Adhe 4q32-qter Syndrome, Chromosome 4 Deletion 4q33-qter sive Arachnoiditis, Chronic Adrenocortical Insufficiency, Syndrome, Chromosome 4 Long Arm Deletion, Chromo Chronic Cavernositis, Chronic Congenital Aregenerative Some 4 Long Arm Deletion, Chromosome 4 Monosomy 4q. Anemia, Chronic Dysphagocytosis, Chronic Familial Chromosome 4-Monosomy 4q, Chromosome 4 Monosomy Granulomatosis, Chronic Familial Icterus, Chronic Fatigue Distal 4q, Chromosome 4 Partial Deletion 4p, Chromosome Immune Dysfunction Syndrome (CFIDS), Chronic Granu 4, Partial Deletion of the Short Arm, Chromosome 4 Partial lomatous Disease, Chronic Guillain-Barre Syndrome, Monosomy of Distal 4q, Chromosome 4 Partial Monosomy Chronic Idiopathic Jaundice, Chronic Idiopathic Polyneuri 4p, Chromosome 4 Partial Trisomy 4 (q25-qter), Chromo tis (CIP), Chronic Inflammatory Demyelinating Polyneur some 4 Partial Trisomy 4 (q26 or q27-qter), Chromosome 4 opathy, Chronic Inflammatory Demyelinating Polyradiculo Partial Trisomy 4 (q31 or 32-qter), Chromosome 4 Partial neuropathy, Chronic Motor Tic, Chronic Mucocutaneous Trisomy 4p, Chromosome 4 Partial Trisomies 4q2 and 4q3. Candidiasis, Chronic Multiple Tics, Chronic Non-Specific Chromosome 4 Partial Trisomy Distal 4, Chromosome 4 Ulcerative Colitis, Chronic Obliterative Cholangitis, Ring, Chromosome 4 4q Terminal Deletion Syndrome, Chronic Peptic Ulcer and Esophagitis Syndrome, Chronic Chromosome 4q-Syndrome, Chromosome 4 Trisomy 4, Progressive Chorea, Chronic Progressive External Ophthal US 2007/01 35335 A1 Jun. 14, 2007 moplegia Syndrome, Chronic Progressive External Ophthal dactyly, Congenital Contractures Multiple with Arachnodac moplegia and myopathy, Chronic Progressive External Oph tyly, Congenital Cyanosis, Congenital Defect of the Skull thalmoplegia with Ragged Red Fibers, Chronic Relapsing and Scalp, Congenital Dilatation of Intrahepatic Bile Duct, Polyneuropathy, Chronic Sarcoidosis, Chronic Spasmodic Congenital Dysmyelinating Neuropathy, Congenital Dysph Dysphonia, Chronic Vomiting in Childhood, CHS, Churg agocytosis, Congenital Dysplastic Angiectasia, Congenital Strauss Syndrome, Cicatricial Pemphigoid, CIP, Cirrhosis Erythropoietic Porphyria, Congenital Erythropoietic Por Congenital Pigmentary, Cirrhosis, Cistinuria, Citrullinemia, phyria, Congenital Factor XIII Deficiency, Congenital Fail CJD. Classic Schindler Disease, Classic Type Pfeiffer Syn ure of Autonomic Control of Respiration, Congenital Famil drome, Classical Maple Syrup Urine Disease, Classical ial Nonhemolytic Jaundice Type I, Congenital Familial Hemophilia, Classical Form Cockayne Syndrome Type I Protracted Diarrhea, Congenital Form Cockayne Syndrome (Type A), Classical Leigh's Disease, Classical Phenylketo Type II (Type B), Congenital Generalized Fibromatosis, nuria, Classical X-Linked Pelizaeus-Merzbacher Brain Scle Congenital German Measles, Congenital Giant AXonal Neu rosis, CLE, Cleft Lip/Palate Mucous Cysts Lower Lip PP ropathy, Congenital Heart Block, Congenital Heart Defects, Digital and Genital Anomalies, Cleft Lip-Palate Blepharo Congenital Hemidysplasia with Ichthyosis Erythroderma phimosis Lagophthalmos and Hypertelorism, Cleft Lip/Pal and Limb Defects, Congenital Hemolytic Jaundice, Con ate with Abnormal Thumbs and Microcephaly, Cleft palate genital Hemolytic Anemia, Congenital Hepatic Fibrosis, joint contractures-dandy walker malformations, Cleft Palate Congenital Hereditary Corneal Dystrophy, Congenital and Cleft Lip, Cleidocranial Dysplasia w/ Micrognathia, Hereditary Lymphedema, Congenital Hyperchondroplasia, Absent Thumbs, & Distal Aphalangia, Cleidocranial Dys Congenital Hypomyelinating Polyneuropathy, Congenital ostosis, Cleidocranial Dysplasia, Click murmur syndrome, Hypomyelination Neuropathy, Congenital Hypomyelina CLN1, Clonic Spasmodic, Cloustons Syndrome, Clubfoot, tion, Congenital Hypomyelination Neuropathy, Congenital CMDI, CMM, CMT, CMTC, CMTX, COA Syndrome, Hypomyelination (Onion Bulb) Polyneuropathy, Congenital Coarctation of the aorta, Coats Disease, Cobblestone dys Ichthyosiform Erythroderma, Congenital Keratoconus, Con plasia, Cochin Jewish Disorder, Cockayne Syndrome, COD genital Lactic Acidosis, Congenital Lactose Intolerance, MD Syndrome, COD, Coffin Lowry Syndrome, Coffin Syn Congenital Lipodystrophy, Congenital Liver Cirrhosis, Con drome, Coffin Siris Syndrome, COFS Syndrome, Cogan genital Lobar Emphysema, Congenital Localized Emphy Corneal Dystrophy, Cogan Reese Syndrome, Cohen Syn sema, Congenital Macroglossia, Congenital Medullary drome, Cold Agglutinin Disease, Cold Antibody Disease, Stenosis, Congenital Megacolon, Congenital Melanocytic Cold Antibody Hemolytic Anemia, Cold Agglutinin Dis Nevus, Congenital Mesodermal Dysmorphodystrophy, Con ease, Colitis Ulcerative, Colitis Gravis, Colitis Ulcerative genital Mesodermal Dystrophy, Congenital Microvillus Chronic Non-Specific Ulcerative Colitis, Collodion Baby, Atrophy, Congenital Multiple Arthrogryposis, Congenital Coloboma Heart Defects Atresia of the Choanae Retardation Myotonic Dystrophy, Congenital Neuropathy caused by of Growth and Development Genital and Urinary Anomalies Hypomyelination, Congenital Pancytopenia, Congenital and Ear Anomalies, Coloboma, Colonic Neurosis, Color Pernicious Anemia, Congenital Pernicious Anemia due to blindness, Colpocephaly, Columnar-Like Esophagus, Com Defect of Intrinsic Factor, Congenital Pernicious Anemia bined Cone-Rod Degeneration, Combined Immunodefi due to Defect of Intrinsic Factor, Congenital Pigmentary ciency with Immunoglobulins, Combined Mesoectodermal Cirrhosis, Congenital Porphyria, Congenital Proximal Dysplasia, Common Variable Hypogammaglobulinemia, myopathy Associated with Desmin Storage myopathy, Con Common Variable Immunodeficiency, Common Ventricle, genital Pulmonary Emphysema, Congenital Pure Red Cell Communicating Hydrocephalus, Complete Absense of Anemia, Congenital Pure Red Cell Aplasia, Congenital Hypoxanthine-Guanine Phosphoribosyltranferase, Com Retinal Blindness, Congenital Retinal Cyst, Congenital plete Atrioventricular Septal Defect, Complement Compo Retinitis Pigmentosa, Congenital Retinoschisis, Congenital nent 1 Inhibitor Deficiciency, Complement Component C1 Rod Disease, Congenital Rubella Syndrome, Congenital Regulatory Component Deficiency, Complete Heart Block, Scalp Defects with Distal Limb Reduction Anomalies, Con Complex Carbohydrate Intolerance, Complex Regional Pain genital Sensory Neuropathy, Congenital SMA with arthro Syndrome, Complex V ATP Synthase Deficiency, Complex gryposis, Congenital Spherocytic Anemia, Congenital I, Complex I NADH dehydrogenase deficiency, Complex II, Spondyloepiphyseal Dysplasia, Congenital Tethered Cervi Complex II Succinate dehydrogenase deficiency, Complex cal Spinal Cord Syndrome, Congenital Tyrosinosis, Con III, Complex III Ubiquinone-cytochrome c oxidoreductase genital Varicella Syndrome, Congenital Vascular Cavernous deficiency, Complex IV, Complex IV Cytochrome c oxidase Malformations, Congenital Vascular Veils in the Retina, deficiency, Complex IV Deficiency, Complex V. Cone-Rod Congenital Word Blindness, Congenital Wandering Spleen Degeneration, Cone-Rod Degeneration Progressive, Cone (Pediatric), Congestive Cardio myopathy, Conical Cornea, Dystrophy, Cone-Rod Dystrophy, Confluent Reticular Pap Conjugated Hyperbilirubinemia, Conjunctivitis, Conjunc illomatosis, Congenital with low PK Kinetics, Congenital tivitis Ligneous, Conjunctivo-Urethro-Synovial Syndrome, Absence of Abdominal Muscles, Congenital Absence of the Conn's Syndrome, Connective Tissue Disease, Conradi Dis Thymus and Parathyroids, Congenital Achromia, Congenital ease, Conradi Hunermann Syndrome, Constitutional Aplas Addison's Disease, Congenital Adrenal Hyperplasia, Con tic Anemia, Constitutional Erythroid Hypoplasia, Constitu genital Afibrinogenemia, Congenital Alveolar HypoVentila tional Eczema, Constitutional Liver Dysfunction, tion, Congenital Anemia of Newborn, Congenital Bilateral Constitutional Thrombopathy, Constricting Bands Congeni Persylvian Syndrome, Congenital Brown Syndrome, Con tal, Constrictive Pericarditis with Dwarfism, Continuous genital Cardiovascular Defects, Congenital Central Muscle Fiber Activity Syndrome, Contractural Arachnodac Hypoventilation Syndrome, Congenital Cerebral Palsy, tyly, Contractures of Feet Muscle Atrophy and Oculomotor Congenital Cervical Synostosis, Congenital Clasped Thumb Apraxia, Convulsions, Cooley's anemia, Copper Transport with Mental Retardation, Congenital Contractural Arachno Disease, Coproporphyria Porphyria Hepatica, Cor Triatria US 2007/01 35335 A1 Jun. 14, 2007

tum, Cor Triatriatum Sinistrum, Cor Triloculare Biatriatum, tional Heart Disease, Deafness-Dwarfism-Retinal Atrophy, Cor Biloculare, Cori Disease, Cornea Dystrophy, Corneal Deafness-Functional Heart Disease, Deafness Onychodys Amyloidosis, Corneal Clouding-Cutis Laxa-Mental Retar trophy Osteodystrophy and Mental Retardation, Deafness dation, Corneal Dystrophy, Cornelia de Lange Syndrome, and Pili Torti Bjornstad Type, Deafness Sensorineural with Coronal Dentine Dysplasia, Coronary Artery Disease, Coro Imperforate Anus and Hypoplastic Thumbs, Debrancher nary Heart Disease, Corpus Callosum Agenesis, Cortical Deficiency, Deciduous Skin, Defect of Enterocyte Intrinsic Basal Ganglionic Degeneration, Corticalis Deformaris, Cor Factor Receptor, Defect of Enterocyte Intrinsic Factor tico-Basal Ganglionic Degeneration (CBGD), Corticobasal Receptor, Defect in Natural Killer Lymphocytes, Defect of Degeneration, Corticosterone Methloxidase Deficiency Renal Reabsorption of Carnitine, Deficiency of Glycopro Type I, Corticosterone Methyloxidase Deficiency Type II, tein Neuraminidase, Deficiency of Mitochondrial Respira Cortisol, Costello Syndrome, Cot Death, COVESDEM Syn tory Chain Complex IV. Deficiency of Platelet Glycoprotein drome, COX, COX Deficiency, COX Deficiency French Ib, Deficiency of Von Willebrand Factor Receptor, Defi Canadian Type, COX Deficiency Infantile Mitochondrial ciency of Short-Chain Acyl-CoA Dehydrogenase (ACADS, myopathy de Toni-Fanconi-Debre included, COX Defi Deformity with Mesomelic Dwarfism, Degenerative Cho ciency Type Benign Infantile Mitochondrial Mypoathy, CP, rea, Degenerative Lumbar Spinal Stenosis, Degos Disease, CPEO, CPEO with myopathy, CPEO with Ragged-Red Degos-Kohlmeier Disease, Degos Syndrome, DEH, Fibers, CPPD Familial Form, CPT Deficiency, CPTD, Cra Dejerine-Roussy Syndrome, Dejerine Sottas Disease, Dele nial Arteritis, Cranial Meningoencephalocele, Cranio-Oro tion 9p Syndrome Partial, Deletion 11q Syndrome Partial, Digital Syndrome, Craniocarpotarsal dystrophy, Craniocele, Deletion 13q Syndrome Partial, Delleman-Oorthuys Syn Craniodigital Syndrome-Mental Retardation Scott Type, drome, Delleman Syndrome, Dementia with Lobar Atrophy Craniofacial Dysostosis, Craniofacial Dysostosis-PD Arte and Neuronal Cytoplasmic Inclusions, Demyelinating Dis riosus-Hypertrichosis-Hypoplasia of Labia, Craniofrontona ease. DeMyer Syndrome, Dentin Dysplasia Coronal, Dentin sal Dysplasia, Craniometaphyseal Dysplasia, Cranioorodigi Dysplasia Radicular, Dentin Dysplasia Type I, Dentin Dys tal Syndrome, Cranioorodigital Syndrome Type II, plasia Type II, Dentinogenesis Imperfecta Brandywine type, Craniostenosis Crouzon Type, Craniostenosis, Craniosynos Dentinogenesis Imperfecta Shields Type, Dentinogenesis tosis-Choanal Atresia-Radial Humeral Synostosis, Cranio Imperfecta Shields Type, Dentinogenesis Imperfecta Type Synostosis-Hypertrichosis-Facial and Other Anomalies, III, Dentinogenesis Imperfecta Type III, Dento-Oculo-Os Craniosynostosis Midfacial Hypoplasia and Foot Abnor Seous Dysplasia, Dento-Oculo-Osseous Dysplasia, Den malities, Craniosynostosis Primary, Craniosynostosis-Ra tooculocutaneous Syndrome, Denys-Drash Syndrome, dial Aplasia Syndrome, Craniosynostosis with Radial Depakene, DepakeneTM exposure, Depakote, Depakote Defects, Cranium Bifidum, CREST Syndrome, Creutzfeldt Sprinkle, Depigmentation-Gingival Fibromatosis-Mi Jakob Disease, Cri du Chat Syndrome, Crib Death, Crigler crophthalmia, Dercum Disease, Dermatitis Atopic, Derma Najjar Syndrome Type I, Crohn's Disease, Cronkhite titis Exfoliativa, Dermatitis Herpetiformis, Dermatitis Mul Canada Syndrome, Cross Syndrome, Cross Syndrome, tiformis, Dermatochalasia Generalized, Dermatolysis Cross-McKusick-Breen Syndrome, Crouzon, Crouzon Syn Generalized, Dermatomegaly, Dermatomyositis sine myosi drome, Crouzon Craniofacial Dysostosis, Cryoglobulinemia tis, Dermatomyositis, Dermatosparaxis, Dermatostomatitis Essential Mixed, Cryptophthalmos-Syndactyly Syndrome, Stevens Johnson Type, Desbuquois Syndrome, Desmin Stor Cryptorchidism-Dwarfism-Subnormal Mentality, Crystal age myopathy, Desquamation of Newborn, Deuteranomaly, line Corneal Dystrophy of Schnyder, CS, CSD, CSID, CSO, Deuteranomaly, Developmental Reading Disorder, Devel CST Syndrome, Curly Hair-Ankyloblephanon-Nail Dyspla opmental Gerstmann Syndrome, Devergie Disease, Devic sia, Curschmann-Batten-Steinert Syndrome, Curth Macklin Disease, Devic Syndrome, Dextrocardia-Bronchiectasis and Type Ichthyosis Hystric, Curth-Macklin Type, Cushings, Sinusitis, Dextrocardia with Situs Inversus, DGS, DGSX Cushing Syndrome, Cushing's III, Cutaneous Malignant Golabi-Rosen Syndrome Included, DH. DHAP alkyl trans Melanoma Hereditary, Cutaneous Porphyrias, Cutis Laxa, ferase deficiency, DHBS Deficiency, DHOF, DHPR Defi Cutis Laxa-Growth Deficiency Syndrome, Cutis Marmorata ciency, Diabetes Insipidus, Diabetes Insipidus Diabetes Telangiectatica Congenita, CVI. CVID, CVS, Cyclic vom Mellitus Optic Atrophy and Deafness, Diabetes Insipidus iting syndrome, Cystic Disease of the Renal Medulla, Cystic Neurohypophyseal, Diabetes Insulin Dependent, Diabetes Disease of the Renal Medulla, Cystic Hygroma, Cystic Mellitus, Diabetes Mellitus Addison's Disease Myxedema, Fibrosis, Cystic Lymphangioma, Cystine-Lysine-Arginine Diabetic Acidosis, Diabetic Bearded Woman Syndrome, Ornithinuria, Cystine Storage Disease, Cystinosis, Cysti Diamond-Blackfan Anemia, Diaphragmatic Apnea, Diaphy nuria, Cystinuria with Dibasic Aminoaciduria, Cystinuria seal Aclasis, Diastrophic Dwarfism, Diastrophic Dysplasia, Type I, Cystinuria Type II, Cystinuria Type III, Cysts of the Diastrophic Nanism Syndrome, Dicarboxylic Aminoaci Renal Medulla Congenital, Cysts of the Renal Medulla duria, Dicarboxylicaciduria Caused by Defect in Beta-Oxi Congenital, Cytochrome C. Oxidase Deficiency, D.C., dation of Fatty Acids, Dicarboxylicaciduria due to Defect in Dacryosialoadenopathy, Dacryosialoadenopathia, Dalpro, Beta-Oxidation of Fatty Acids, Dicarboxylicaciduria due to Dalton, Daltonism, Danbolt-Cross Syndrome, Dancing MCADH Deficiency, Dichromasy, Dicker-Opitz, DID Eyes-Dancing Feet Syndrome, Dandy-Walker Syndrome, MOAD. Diencephalic Syndrome, Diencephalic Syndrome Dandy-Walker Cyst, Dandy-Walker Deformity, Dandy of Childhood, Diencephalic Syndrome of Emaciation, Walker Malformation, Danish Cardiac Type Amyloidosis Dienoyl-CoA Reductase Deficiency. Diffuse Cerebral (Type III), Darier Disease, Davidson's Disease, Davies Degeneration in Infancy, Diffuse Degenerative Cerebral Disease, DBA, DBS, DC, DD, De Barsy Syndrome, De Disease. Diffuse Idiopathic Skeletal Hyperostosis, Dif Barsy-Moens-Diercks Syndrome, de Lange Syndrome, De fusum-Glycopeptiduria, DiGeorge Syndrome, DiGeorge Morsier Syndrome, De Santis Cacchione Syndrome, de Syndrome, Digital-Oro-Cranio Syndrome, Digito-Oto-Pala Toni-Fanconi Syndrome, Deafness Congenital and Func tal Syndrome, Digito-Oto-Palatal Syndrome Type I, Digito US 2007/01 35335 A1 Jun. 14, 2007

Oto-Palatal Syndrome Type II, Dihydrobiopterin Synthetase giomas, Dyschondrosteosis, Dyschromatosis Universalis Deficiency, Dihydrobiopterin Synthetase Deficiency, Dihy Hereditaria, Dysencephalia Splanchinocystica, Dyskeratosis dropteridine Reductase Deficiency, Dihydropteridine Congenita, Dyskeratosis Congenita Autosomal Recessive, Reductase Deficiency, Dihydroxyacetonephosphate Syn Dyskeratosis Congenita Scoggins Type, Dyskeratosis Con thase, Dilated (Congestive) Cardiomyopathy, Dimitri Dis genita Syndrome, Dyskeratosis Follicularis Vegetans, Dys ease, Diplegia of Cerebral Palsy, Diplo-Y Syndrome, Dis lexia, Dysmyelogenic Leukodystrophy, Dysmyelogenic accharidase Deficiency, Disaccharide Intolerance I, Discoid Leukodystrophy-Megalobare, Dysphonia Spastica, Dyspla Lupus, Discoid Lupus Erythematosus, DISH, Disorder of sia Epiphysialis Punctata, Dysplasia Epiphyseal Cornification, Disorder of Cornification Type I, Disorder of Hemimelica, Dysplasia of Nails With Hypodontia, Dyspla Cornification 4, Disorder of Cornification 6, Disorder of sia Cleidocranial, Dysplasia Fibrous, Dysplasia Gigantism Cornification 8, Disorder of Cornification 9 Netherton's Syndromex-Linked, Dysplasia Osteodental, Dysplastic Type, Disorder of Cornification 11 Phytanic Acid Type, Nevus Syndrome, Dysplastic Nevus Syndrome, Dysplastic Disorder of Cornification 12 (Neutral Lipid Storage Type), Nevus Type, Dyssynergia Cerebellaris Myoclonica, Dyssyn Disorder of Conification 13, Disorder of Cornification 14, ergia Esophagus, Dystonia, Dystonia, Dystopia Canthorum, Disorder of Cornification 14 Trichothiodystrophy Type, Dis Dystopia Canthorum, Dystrophia Adiposogenitalis, Dystro order of Cornification 15 (Keratitis Deafness Type), Disor phia Endothelialis Cornea, Dystrophia Mesodermalis, Dys der of Cornification 16, Disorder of Cornification 18 Eryth trophic Epidermolysis Bullosa, Dystrophy, Asphyxiating rokeratodermia Variabilis Type, Disorder of Cornification Thoracic, Dystrophy Myotonic, E-D Syndrome, Eagle-Bar 19, Disorder of Cornification 20, Disorder of Cornification rett Syndrome, Eales Retinopathy, Eales Disease, Ear 24, Displaced Spleen, Disseminated Lupus Erythematosus, Anomalies-Contractures-Dysplasia of Bone with Disseminated Neurodermatitis, Disseminated Sclerosis, Kyphoscoliosis, Ear Patella Short Stature Syndrome, Early Distal 11q Monosomy, Distal 11q-Syndrome, Distal Arthro Constraint Defects, Early Hypercalcemia Syndrome with gryposis Multiplex Congenita Type IIA, Distal Arthrogry Elfin Facie, Early-onset Dystonia, Eaton Lambert Syn posis Multiplex Congenita Type IIA, Distal Arthrogryposis drome, EB, Ebstein's anomaly, EBV Susceptibility (EBVS), Type IIA, Distal Arthrogryposis Type 2A, Distal Duplication EBVS, ECD, ECPSG, Ectodermal Dysplasias, Ectodermal 6q Distal Duplication 10q, Dup(10q) Syndrome, Distal Dysplasia Anhidrotic with Cleft Lip and Cleft Palate, Ecto Duplication 15q Distal Monosomy 9p, Distal Trisomy 6q, dermal Dysplasia-Exocrine Pancreatic Insufficiency, Ecto Distal Trisomy 10q Syndrome, Distal Trisomy 1 q Dival dermal Dysplasia Rapp-Hodgkin type, Ectodermal and proex, DJS, DKC, DLE, DLPIII, DM, DMC Syndrome, Mesodermal Dysplasia Congenital, Ectodermal and Meso DMC Disease, DMD, DNS Hereditary, DOC I, DOC 2. dermal Dysplasia with Osseous Involvement, Ectodermosis DOC 4, DOC 6 (Harlequin Type), DOC 8 Curth-Macklin Erosiva Pluriorificialis, Ectopia Lentis, Ectopia Vesicae, Type, DOC 11 Phytanic Acid Type, DOC 12 (Neutral Lipid Ectopic ACTH Syndrome, Ectopic Adrenocorticotropic Storage Type), DOC 13, DOC 14, DOC 14 Trichothiodys Hormone Syndrome, Ectopic Anus, Ectrodactilia of the trophy Type, DOC 15 (Keratitis Deafness Type), DOC 16, Hand, Ectrodactyly, Ectrodactyly-Ectodermal Dysplasia DOC 16 Unilateral Hemidysplasia Type, DOC 18, DOC 19, Clefting Syndrome, Ectrodactyly Ectodermal Dysplasia DOC 20, DOC 24, Dohle's Bodies-Myelopathy, Dolichos Cleft Lip/Cleft Palate, Eczema, Eczema-Thrombocytope pondylic Dysplasia, DolichoStenomelia, DolichoStenomelia nia-Immunodeficiency Syndrome, EDA, EDMD, EDS, EDS Syndrome, Dominant Type Kenny-Caffe Syndrome, Domi Arterial-Ecchymotic Type, EDS Arthrochalasia, EDS Clas nant Type Myotonia Congenita, Donahue Syndrome, sic Severe Form, EDS Dysfibronectinemic, EDS Gravis Donath-Landsteiner Hemolytic Anemia, Donath-Land Type, EDS Hypermobility, EDS Kyphoscoliotic, EDS steiner Syndrome, DOOR Syndrome, DOORS Syndrome, Kyphoscoliosis, EDS Mitis Type, EDS Ocular-Scoliotic, Dopa-responsive Dystonia (DRD), Dorfman Chanarin Syn EDS Progeroid, EDS Periodontosis, EDS Vascular, EEC drome, Dowling-Meara Syndrome, Down Syndrome, DR Syndrome, EFE, EHBA, EHK, Ehlers Danlos Syndrome, Syndrome, Drash Syndrome, DRD, Dreifuss-Emery Type Ehlers-Danlos syndrome, Ehlers Danlos IX, Eisenmenger Muscular Dystrophy with Contractures, Dressler Syndrome, Complex, Eisenmenger's complex, Eisenmenger Disease, Drifting Spleen, Drug-induced Acanthosis Nigricans, Drug Eisenmenger Reaction, Eisenmenger Syndrome, Ekbom induced Lupus Erythematosus, Drug-related Adrenal Insuf Syndrome, Ekman-Lobstein Disease, Ektrodactyly of the ficiency, Drummond's Syndrome, Dry Beriberi, Dry Eye, Hand, Ektrodactyly of the Hand, EKV, Elastin fiber disor DTD, Duane's Retraction Syndrome, Duane Syndrome, ders, Elastorrhexis Generalized, Elastosis Dystrophica Syn Duane Syndrome Type IA 1B and 1C, Duane Syndrome drome, Elective Mutism (obsolete), Elective Mutism, Elec Type 2A2B and 2C, Duane Syndrome Type 3A 3B and 3C, trocardiogram (ECG or EKG), Electron Transfer Dubin Johnson Syndrome, Dubowitz Syndrome, Duchenne, Flavoprotein (ETF) Dehydrogenase Deficiency: (GAII & Duchenne Muscular Dystrophy, Duchenne's Paralysis, MADD), Electrophysiologic study (EPS), Elephant Nails Duhring's Disease, Duncan's Disease, Duodenal Atresia, From Birth, Elephantiasis Congenita Angiomatosa, Duodenal Stenosis, Duodenitis, Duplication 4p Syndrome, Hemangiectatic Hypertrophy, Elfin Facies with Hypercalce Duplication 6q Partial, Dupuy's Syndrome, Dupuytren’s mia, Ellis-van Creveld Syndrome, Embryoma Kidney, Contracture, Dutch-Kennedy Syndrome, Dwarfism, Dwarf Embryonal Adenomyosarcoma Kidney, Embryonal Carci ism Campomelic, Dwarfism Cortical Thickening of the nosarcoma Kidney, Embryonal Mixed Tumor Kidney, EMC, Tubular Bones & Transient Hypocalcemia, Dwarfism Levi's Emery Dreyfus Muscular Dystrophy, Emery-Dreifuss Mus Type, Dwarfism Metatropic, Dwarfism-Onychodysplasia, cular Dystrophy, Emery-Dreifuss Syndrome, EMF, EMG Dwarfism-Pericarditis, Dwarfism with Renal Atrophy and Syndrome, Empty Sella Syndrome, Encephalitis Periaxialis Deafness, Dwarfism with Rickets, DWM, Dyggve Melchior Diffusa, Encephalitis Periaxialis Concentrica, Encephalo Clausen Syndrome, Dysautonomia Familial, Dysbetalipo cele, Encephalofacial Angiomatosis, Encephalopathy, proteinemia Familial, Dyschondrodysplasia with Heman Encephalotrigeminal Angiomatosis, Enchondromatosis with US 2007/01 35335 A1 Jun. 14, 2007

Multiple Cavernous Hemangiomas, Endemic Polyneuritis, XIII Deficiency, Fahr Disease, Fahr's Disease, Failure of Endocardial Cushion Defect, Endocardial Cushion Defects, Secretion Gastric Intrinsic Factor, Fairbank Disease, Fallots Endocardial Dysplasia, Endocardial Fibroelastosis (EFE). Tetralogy, Familial Acrogeria, Familial Acrogeria, Familial Endogenous Hypertriglyceridemia, Endolymphatic Acromicria, Familial Acromicria, Familial Adenomatous Hydrops, Endometrial Growths, Endometriosis, Endomyo Colon Polyposis, Familial Adenomatous Polyposis with cardial Fibrosis, Endothelial Corneal Dystrophy Congenital, Extraintestinal Manifestations, Familial Alobar Holoprosen Endothelial Epithelial Corneal Dystrophy, Endothelium, cephaly, Familial Alpha-Lipoprotein Deficiency, Familial Engelmann Disease, Enlarged Tongue, Enterocolitis, Amyotrophic Chorea with Acanthocytosis, Familial Enterocyte Cobalamin Malabsorption, Eosinophia Syn Arrhythmic Myoclonus, Familial Articular Chondrocalcino drome, Eosinophilic Cellulitis, Eosinophilic Fasciitis, Eosi sis, Familial Atypical Mole-Malignant Melanoma Syn nophilic Granuloma, Eosinophilic Syndrome, Epidermal drome, Familial Broad Beta Disease, Familial Calcium Nevus Syndrome, Epidermolysis bullosa, Epidermolysis Gout, Familial Calcium Pyrophosphate Arthropathy, Famil Bullosa, Epidermolysis Bullosa Acquisita, Epidermolysis ial Chronic Obstructive Lung Disease, Familial Continuous Bullosa Hereditaria, Epidermolysis Bullosa Letalias, Epi Skin Peeling, Familial Cutaneous Amyloidosis, Familial dermolysis Hereditaria Tarda, Epidermolytic Hyperkerato Dysproteinemia, Familial Emphysema, Familial Enteropa sis, Epidermolytic Hyperkeratosis (Bullous CIE), Epilepsia thy MicroVillus, Familial Foveal Retinoschisis, Familial Procursiva, Epilepsy, Epinephrine, Epiphyseal Changes and Hibernation Syndrome, Familial High Cholesterol, Familial High Myopia, Epiphyseal Osteochondroma Benign, Epiphy Hemochromatosis, Familial High Blood Cholesterol, Famil sealis Hemimelica Dysplasia, Episodic-Abnormal Eye ial High-Density Lipoprotein Deficiency, Familial High Movement, Epithelial Basement Membrane Corneal Dys Serum Cholesterol, Familial Hyperlipidema, Familial Hypo trophy, Epithelial Corneal Dystrophy of Meesmann Juve proteinemia with Lymphangietatic Enteropathy, Familial nile, Epitheliomatosis Multiplex with Nevus, Epithelium, Jaundice, Familial Juvenile Nephronophtisis-Associated Epival, EPS, Epstein-Barr Virus-Induced Lymphoprolifera Ocular Anomaly, Familial Lichen Amyloidosis (Type IX), tive Disease in Males, Erb-Goldflam syndrome, Erdheim Familial Lumbar Stenosis, Familial Lymphedema Praecox, Chester Disease, Erythema Multiforme Exudativum, Familial Mediterranean Fever, Familial Multiple Polyposis, Erythema Polymorphe Stevens Johnson Type, Erythroblas Familial Nuchal Bleb, Familial Paroxysmal Polyserositis, tophthisis, Erythroblastosis Fetalis, Erythroblastosis Neona Familial Polyposis Coli, Familial Primary Pulmonary. torum, Erythroblastotic Anemia of Childhood, Erythrocyte Hypertension, Familial Renal Glycosuria, Familial Splenic Phosphoglycerate Kinase Deficiency, Erythrogenesis Imper Anemia, Familial Startle Disease, Familial Visceral Amy fecta, Erythrokeratodermia Progressiva Symmetrica, Eryth loidosis (Type VIII), FAMMM, FANCA, FANCB, FANCC, rokeratodermia Progressiva Symmetrica Ichthyosis, Eryth FANCD, FANCE, Fanconi Panmyelopathy, Fanconi Pancy rokeratodermia Variabilis, Erythrokeratodermia Variabilis, topenia, Fanconi II, Fanconi's Anemia, Fanconi's Anemia Erythrokeratodermia Variabilis Type, Erythrokeratolysis Type I, Fanconi's Anemia Complementation Group, Fanco Hiemalis, Erythrokeratolysis Hiemalis, Erythropoietic Por ni's Anemia Complementation Group A, Fanconi's Anemia phyrias, Erythropoietic Porphyria, Escobar Syndrome, Complementation Group B, Fanconi's Anemia Complemen Esophageal Atresia, Esophageal Aperistalsis, Esophagitis tation Group C, Fanconi's Anemia Complementation Group Peptic Ulcer, Esophagus Atresia and/or Tracheoesophageal D. Fanconi's Anemia Complementation Group E, Fanconi's Fistula, Essential Familial Hyperlipemia, Essential Fructo Anemia Complementation Group G, Fanconi’s. Anemia Suria, Essential Hematuria, Essential Hemorrhagic Throm Complementation Group H, Fanconi's Anemia Estren bocythemia, Essential Mixed Cryoglobulinemia, Essential Dameshek Variant, FANF, FANG, FANH, FAP, FAPG, Moschowitz Disease, Essential Thrombocythemia, Essential Farber's Disease, Farber's Lipogranulomatosis, FAS, Fast Thrombocythemia, Essential Thrombocytopenia, Essential ing Hypoglycemia, Fat-Induced Hyperlipemia, Fatal Granu Thrombocytosis, Essential Tremor, Esterase Inhibitor Defi lomatous Disease of Childhood, Fatty Oxidation Disorders, ciency, Estren-Dameshek variant of Fanconi Anemia, Estro Fatty Liver with Encephalopathy, FAV, FCH, FCMD, FCS gen-related Cholestasis, ET, ETF, Ethylmalonic Adipicaci Syndrome, FD, FDH, Febrile Mucocutaneous Syndrome duria, Eulenburg Disease, pc, EVCS, Exaggerated Startle Stevens Johnson Type, Febrile Neutrophilic Dermatosis Reaction, EXencephaly, Exogenous Hypertriglyceridemia, Acute, Febrile Seizures, Feinberg's syndrome, Feissinger Exomphalos-Macroglossia-Gigantism Syndrom, Exoph Leroy-Reiter Syndrome, Female Pseudo-Turner Syndrome, thalmic Goiter, Expanded Rubella Syndrome, Exstrophy of Femoral Dysgenesis Bilateral-Robin Anomaly, Femoral the Bladder, EXT, External Chondromatosis Syndrome, Dysgenesis Bilateral, Femoral Facial Syndrome, Femoral Extrahepatic Biliary Atresia, Extramedullary Plasmacy Hypoplasia-Unusual Facies Syndrome, Fetal Alcohol Syn toma, Exudative Retinitis, Eye Retraction Syndrome, FA1, drome, Fetal Anti-Convulsant Syndrome, Fetal Cystic FAA, Fabry Disease, FAC, FACB, FACD, FACE, FACF, Hygroma, Fetal Effects of Alcohol, Fetal Effects of Chick FACG, FACH, Facial Nerve Palsy, Facial Paralysis, Facial enpox, Fetal Effects of Thalidomide, Fetal Effects of Vari Ectodermal Dysplasias, Facial Ectodermal Dysplasia, Facio cella Zoster Virus, Fetal Endomyocardial Fibrosis, Fetal Scapulo-Humeral Dystrophy, Facio-Auriculo-Vertebral Face Syndrome, Fetal Iritis Syndrome, Fetal Transfusion Spectrum, Facio-cardio-cutaneous syndrome, Facio-Fronto Syndrome, Fetal Valproate Syndrome, Fetal Valproic Acid Nasal Dysplasia, Faciocutaneoskeletal Syndrome, Facio Exposure Syndrome, Fetal Varicella Infection, Fetal Vari digitogenital syndrome, Faciogenital dysplasia, Faciogeni cella Zoster Syndrome, FFDD Type II, FG Syndrome, topopliteal Syndrome, Faciopalatoosseous Syndrome, FGDY, FHS, Fibrin Stabilizing Factor Deficiency, Fibrinase Faciopalatoosseous Syndrome Type II, Facioscapulo Deficiency, Fibrinoid Degeneration of Astrocytes, Fibrinoid humeral muscular dystrophy, Factitious Hypoglycemia, Fac Leukodystrophy, Fibrinoligase Deficiency, Fibroblastoma tor VIII Deficiency, Factor IX Deficiency, Factor IX Defi Perineural, Fibrocystic Disease of Pancreas, Fibrodysplasia ciency, Factor XI Deficiency, Factor XII deficiency, Factor Ossificans Progressiva, Fibroelastic Endocarditis, Fibromy US 2007/01 35335 A1 Jun. 14, 2007

algia, Fibromyalgia-Fibromyositis, Fibromyositis, Fibrosing Neuromytonia, Genetic Disorders, Genital Defects, Genital Cholangitis, Fibrositis, Fibrous Ankylosis of Multiple and Urinary Tract Defects, Genital and Urinary Tract Joints, Fibrous Cavernositis, Fibrous Dysplasia, Fibrous Defects, Gerstmann Syndrome, Gerstmann Tetrad, GHBP. Plaques of the Penis, Fibrous Sclerosis of the Penis, Fickler GHD, GHR. Giant Axonal Disease, Giant Axonal Neuropa Winkler Type, Fiedler Disease, Fifth Digit Syndrome, Fil thy, Giant Benign Lymphoma, Giant Cell Glioblastoma ippi Syndrome, Finnish Type Amyloidosis (Type V). First Astrocytoma, Giant Cell Arteritis, Giant Cell Disease of the Degree Congenital Heart Block, First and Second Branchial Liver, Giant Cell Hepatitis, Giant Cell of Newborns Cirrho Arch Syndrome, Fischer's Syndrome, Fish Odor Syndrome, sis, Giant Cyst of the Retina, Giant Lymph Node Hyperpla Fissured Tongue, Flat Adenoma Syndrome, Flatau-Schilder sia, Giant Platelet Syndrome Hereditary, Giant Tongue. gic Disease, Flavin Containing Monooxygenase 2, Floating Macular Dystrophy, Gilbert's Disease, Gilbert Syndrome, Beta Disease, Floating-Harbor Syndrome, Floating Spleen, Gilbert-Dreyfus Syndrome, Gilbert-Lereboullet Syndrome, Floppy Infant Syndrome, Floppy Valve Syndrome, Fluent Gilford Syndrome, Gilles de la Tourette's syndrome, aphasia, FMD, FMF, FMO Adult Liver Form, FMO2, FND, Gillespie Syndrome, Gingival Fibromatosis-Abnormal Fin Focal Dermal Dysplasia Syndrome, Focal Dermal Hypopla gers Nails Nose Ear Splenomegaly, GLA Deficiency, GLA, sia, Focal Dermato-Phalangeal Dysplasia, Focal Dystonia, GLB1, Glioma Retina, Global aphasia, Globoid Leukodys Focal Epilepsy, Focal Facial Dermal Dysplasia Type II, trophy, Glossoptosis Micrognathia and Cleft Palate, Gluco Focal Neuromyotonia, FODH, Folling Syndrome, Fong cerebrosidase deficiency, Glucocerebrosidosis, Glucose-6- Disease, FOP, Forbes Disease, Forbes-Albright Syndrome, Phosphate Dehydrogenase Deficiency, Glucose-6-Phosphate Forestier's Disease, Forsius-Eriksson Syndrome Tranport Defect, Glucose-6-Phospate Translocase Defi (X-Linked), Fothergill Disease. Fountain Syndrome, Foveal ciency, Glucose-G-Phosphatase Deficiency, Glucose-Galac Dystrophy Progressive, FPO Syndrome Type II, FPO, Frac tose Malabsorption, Glucose-Galactose Malabsorption, Glu caro Type Achondrogenesis (Type IB), Fragile X syndrome, cosyl Ceramide Lipidosis, Glutaric Aciduria I, Glutaric Franceschetti-Zwalen-Klein Syndrome, Francois Dysceph Acidemia I, Glutaric Acidemia II, Glutaric Aciduria II, aly Syndrome, Francois-Neetens Speckled Dystrophy, Glutaric Aciduria Type II, Glutaric Aciduria Type III, Glu Flecked Corneal Dystrophy, Fraser Syndrome, FRAXA, taricacidemia I, Glutaricacidemia II, Glutaricaciduria I, Glu FRDA, Fredrickson Type I Hyperlipoproteinemia, Freeman taricaciduria II, Glutaricaciduria Type IIA, Glutaricaciduria Sheldon Syndrome, Freire-Maia Syndrome, Frey's Syn Type IIB, Glutaryl-CoA Dehydrogenase Deficiency, Glutau drome, Friedreich's Ataxia, Friedreich's Ataxia, Frie rate-Aspartate Transport Defect, Gluten-Sensitive Enteropa dreich's Disease, Friedreich's Tabes, FRNS, Froelich's thy, Glycogen Disease of Muscle Type VII, Glycogen Stor Syndrome. Frommel-Chiari Syndrome. Frommel-Chiari age Disease I, Glycogen Storage Disease III, Glycogen Syndrome Lactation-Uterus Atrophy, Frontodigital Syn Storage Disease IV. Glycogen Storage Disease Type V. drome. Frontofacionasal Dysostosis, Frontofacionasal Dys Glycogen Storage Disease VI. Glycogen Storage Disease plasia, Frontonasal Dysplasia, Frontonasal Dysplasia with VII, Glycogen Storage Disease VIII, Glycogen Storage Coronal Craniosynostosis, Fructose-1-Phosphate Aldolase Disease Type II, Glycogenosis, Glycogenosis Type I, Gly Deficiency, Fructosemia, Fructosuria, Fryns Syndrome, cogenosis Type IA, Glycogenosis Type IB, Glycogenosis FSH, FSHD, FSS, Fuchs Dystrophy, Fucosidosis Type 1, Type II, Glycogenosis Type III, Glycogenosis Type IV. Fucosidosis Type 2, Fucosidosis Type 3, Fukuhara Syn Glycogenosis Type V. Glycogenosis Type VI. Glycogenosis drome, Fukuyama Disease, Fukuyama Type Muscular Dys Type VII, Glycogenosis Type VIII, Glycolic Aciduria, Gly trophy, Fumarylacetoacetase deficiency. Furrowed Tongue, colic Aciduria, Glycolipid Lipidosis, GM2 Gangliosidosis G Syndrome, G6PD Deficiency, G6PD, GA I, GA IIB, GA Type 1, GM2 Gangliosidosis Type 1, GNPTA, Goitrous IIA, GA II, GAII & MADD, Galactorrhea-Amenorrhea Autoimmune Thyroiditis, Goldenhar Syndrome, Goldenhar Syndrome Nonpuerperal, Galactorrhea-Amenorrhea with Gorlin Syndrome, Goldscheider's Disease, Goltz Syndrome, out Pregnancy, Galactosamine-6-Sulfatase Deficiency, Goltz-Gorlin Syndrome, Gonadal Dysgenesis 45 X, Galactose-1-Phosphate Uridyl Transferase Deficiency, Gonadal Dysgenesis XO, Goniodysgenesis-Hypodontia, Galactosemia, GALB Deficiency, Galloway-Mowat Syn Goodman Syndrome, Goodman, Goodpasture Syndrome, drome, Galloway Syndrome, GALT Deficiency, Gamma Gordon Syndrome, Gorlin’s Syndrome, Gorlin-Chaudhry globulin Deficiency, GAN, Ganglioside Neuraminidase Moss Syndrome, Gottron Erythrokeratodermia Congenitalis Deficiency, Ganglioside Sialidase Deficiency, Gangliosido Progressiva Symmetrica, Gottron’s Syndrome, Gougerot sis GM1 Type 1, Gangliosidosis GM2 Type 2, Gangliosi Carteaud Syndrome, Grand Mal Epilepsy, Granular Type dosis Beta Hexosaminidase B Defeciency, Gardner Syn Corneal Dystrophy, Granulomatous Arteritis, Granuloma drome, Gardner Syndrome, Gargoylism, Garies-Mason tous Colitis, Granulomatous Dermatitis with Eosinophilia, Syndrome, Gasser Syndrome, Gastric Intrinsic Factor Fail Granulomatous Ileitis, Graves Disease, Graves Hyperthy ure of Secretion, Enterocyte Cobalamin, Gastrinoma, Gas roidism, Graves Disease, Greig Cephalopolysyndactyly tritis, Gastroesophageal Laceration-Hemorrhage, Gas Syndrome, Groenouw Type I Corneal Dystrophy, Groenouw trointestinal Polyposis and Ectodermal Changes, Type II Corneal Dystrophy, Gronblad-Strandberg Syn Gastroschisis, Gaucher Disease, Gaucher-Schlagenhaufer, drome, Grotton Syndrome, Growth Hormone Receptor Gayet-Wernicke Syndrome, GBS, GCA, GCM Syndrome, Deficiency, Growth Hormone Binding Protein Deficiency, GCPS, Gee-Herter Disease, Gee-Thaysen Disease, Gehrig's Growth Hormone Deficiency, Growth-Mental Deficiency Disease, Gelineau's Syndrome, Genee-Wiedemann Syn Syndrome of Myhre. Growth Retardation-Rieger Anomaly, drome, Generalized Dystonia, Generalized Familial Neu GRS, Gruber Syndrome, GS, GSD6, GSD8, GTS, Gua romyotonia, Generalized Fibromatosis, Generalized Flexion nosine Triphosphate-Cyclohydrolase Deficiency, Guanosine Epilepsy, Generalized Glycogenosis, Generalized Hyper Triphosphate-Cyclohydrolase Deficiency, Guenther Porphy hidrosis, Generalized Lipofuscinosis, Generalized Myasthe ria, Guerin-Stern Syndrome, Guillain-Barré, Guillain-Barre nia Gravis, Generalized Myotonia, Generalized Sporadic Syndrome, Gunther Disease, H Disease, H. Gottron’s Syn US 2007/01 35335 A1 Jun. 14, 2007 20 drome, H. Gottron’s Syndrome, Habit Spasms, HAE, Hage tary Nephritis and Nerve Deafness, Hereditary Nephropathic man Factor Deficiency, Hageman factor, Haim-Munk Syn Amyloidosis, Hereditary Nephropathy and Deafness, drome, Hajdu–Cheney Syndrome, Hajdu Cheney, HAL Hereditary Nonpolyposis Colorectal Cancer, Hereditary Deficiency, Hall-Pallister Syndrome, Hallermann-Streiff Nonpolyposis Colorectal Carcinoma, Hereditary Non Francois syndrome, Hallermann-Streiff Syndrome, Haller spherocytic Hemolytic Anemia, Hereditary Onychoosteod Vorden-Spatz Disease, Hallervorden-Spatz Syndrome, Hal ysplasia, Hereditary Optic Neuroretinopathy, Hereditary lopeau-Siemens Disease, Hallux Duplication Postaxial Polyposis Coli, Hereditary Sensory and Autonomic Neur Polydactyly and Absence of Corpus Callosum, Halushi opathy Type I, Hereditary Sensory and Autonomic Neur Behcet’s Syndrome, Hamartoma of the Lymphatics, Hand opathy Type II, Hereditary Sensory and Autonomic Neur Schueller-Christian Syndrome, HANE, Hanhart Syndrome, opathy Type III, Hereditary Sensory Motor Neuropathy, Happy Puppet Syndrome, Harada Syndrome, HARD +/-E Hereditary Sensory Neuropathy Type I, Hereditary Sensory Syndrome, HARD Syndrome, Hare Lip, Harlequin Fetus, Neuropathy Type II, Hereditary Sensory Neuropathy Type Harlequin Type DOC 6, Harlequin Type Ichthyosis, Harley III, Hereditary Sensory Radicular Neuropathy Type I, Syndrome, Harrington Syndrome, Hart Syndrome, Hartnup Hereditary Sensory Radicular Neuropathy Type II, Heredi Disease, Hartnup Disorder, Hartnup Syndrome, Hashimo tary Site Specific Cancer, Hereditary Spherocytic Hemolytic to's Disease, Hashimoto-Pritzker Syndrome, Hashimoto's Anemia, Hereditary Spherocytosis, Hereditary Tyrosinemia Syndrome, Hashimoto's Thyroiditis, Hashimoto's Thyroidi Type 1, Heritable Connective Tissue Disorders, Herlitz tis, Hashimoto-Pritzker Syndrome, Hay Wells Syndrome, Syndrome, Hermans-Herzberg Phakomatosis, Hermansky Hay-Wells Syndrome of Ectodermal Dysplasia, HCMM, Pudlak Syndrome, Hermansky-Pudlak Syndrome, Her HCP, HCTD, HD, Heart-Hand Syndrome (Holt-Oram maphroditism, Herpes Zoster, Herpes Iris Stevens-Johnson Type), Heart Disease, Hecht Syndrome, HED, Heerferdt Type, Hers Disease, Heterozygous Beta Thalassemia, Waldenstrom and Lofgren's Syndromes, Hegglin's Disease, Hexoaminidase Alpha-Subunit Deficiency (Variant B), Heinrichsbauer Syndrome, Hemangiomas, Hemangioma Hexoaminidase Alpha-Subunit Deficiency (Variant B), Familial, Hemangioma-Thrombocytopenia Syndrome, HFA, HFM, HGPS, HH, HHHO, HHRH, HHT, Hiatal Hemangiomatosis Chondrodystrophica, Hemangiomatous Hernia-Microcephaly-Nephrosis Galloway Type, Hidrad Branchial Clefts-Lip Pseudocleft Syndrome, Hemifacial enitis Suppurativa, Hidrosadenitis Axillaris, Hidrosadenitis Microsomia, Hemimegalencephaly, Hemiparesis of Cere Suppurativa, Hidrotic Ectodermal Dysplasias, HIE Syn bral Palsy, Hemiplegia of Cerebral Palsy, Hemisection of the drome, High Imperforate Anus, High Potassium, High Spinal Cord, Hemochromatosis, Hemochromatosis Syn Scapula, HIM, Hirschsprung's Disease, Hirschsprung's Dis drome, Hemodialysis-Related Amyloidosis, Hemoglobin ease Acquired, Hirschsprung Disease Polydactyly of Ulnar Lepore Syndromes, Hemolytic Anemia of Newborn, & Big Toe and VSD, Hirschsprung Disease with Type D Hemolytic Cold Antibody Anemia, Hemolytic Disease of Brachydactyly, Hirsutism, HIS Deficiency. Histidine Newborn, Hemolytic-Uremic Syndrome, Hemolytic-Ure Ammonia-Lyase (HAL) Deficiency. Histidase Deficiency, mic Syndrome, Hemophilia, Hemophilia A, Hemophilia B, Histidinemia, Histidinemia, Histiocytosis. Histiocytosis X. Hemophilia B Factor IX, Hemophilia C, Hemorrhagic Dys HLHS, HLP Type II, HMG, HMI, HMSN I, HNHA, trophic Thrombocytopenia, Hemorrhagica Aleukia, Hemo HOCM, Hodgkin Disease, Hodgkin’s Disease, Hodgkin’s siderosis, Hepatic Fructokinase Deficiency, Hepatic Phos Lymphoma, Hollaender-Simons Disease, Holmes-Adie Syn phorylase Kinase Deficiency, Hepatic Porphyria, Hepatic drome, Holocarboxylase Synthetase Deficiency, Holo Porphyrias, Hepatic Veno-Occlusive Disease, Hepato-Renal prosencephaly, Holoprosencephaly Malformation Complex, Syndrome, Hepatolenticular Degeneration, Hepatophospho Holoprosencephaly Sequence, Holt-Oram Syndrome, Holt rylase Deficiency, Hepatorenal Glycogenosis, Hepatorenal Oram Type Heart-Hand Syndrome, Homocystinemia, Syndrome, Hepatorenal Tyrosinemia, Hereditary Acromela Homocystinuria, Homocystinuria, Homogentisic Acid Oxi lgia, Hereditary Alkaptonuria, Hereditary Amyloidosis, dase Deficiency, Homogentisic Acidura, Homozygous Hereditary Angioedema, Hereditary Areflexic Dystasia, Alpha-1-Antitrypsin Deficiency, HOOD, Horner Syndrome, Heredopathia Atactica Polyneuritiformis, Hereditary Ataxia, Horton's disease, HOS, HOS1, Houston-Harris Type Ach Hereditary Ataxia Friedrich's Type, Hereditary Benign rondrogenesis (Type IA), HPS, HRS, HS, HSAN Type I, Acanthosis Nigricans, Hereditary Cerebellar Ataxia, Heredi HSAN Type II, HSAN-III, HSMN, HSMN Type III, HSN I, tary Chorea, Hereditary Chronic Progressive Chorea, HSN-III, Huebner-Herter Disease, Hunner's Patch, Hun Hereditary Connective Tissue Disorders, Hereditary Copro ner's Ulcer, Hunter Syndrome, Hunter Syndrome, Hunter porphyria, Hereditary Coproporphyria Porphyria, Heredi Thompson Type Acromesomelic Dysplasia, Huntington's tary Cutaneous Malignant Melanoma, Hereditary Deafness Chorea, Huntington's Disease, Hurler Disease, Hurler Dis Retinitis Pigmentosa, Heritable Disorder of Zinc Deficiency, ease, Hurler Syndrome, Hurler-Scheie Syndrome, HUS, Hereditary DNS, Hereditary Dystopic Lipidosis, Hereditary Hutchinson-Gilford Progeria Syndrome, Hutchinson-Gil Emphysema, Hereditary Fructose Intolerance, Hereditary ford Syndrome, Hutchinson-Weber-Peutz Syndrome, Hut Hemorrhagic Telangiectasia, Hereditary Hemorrhagic terite Syndrome Bowen-Conradi Type, Hyaline Panneuropa Telangiectasia Type I, Hereditary Hemorrhagic Telangiecta thy, Hydranencephaly, Hydrocephalus, Hydrocephalus sia Type II, Hereditary Hemorrhagic Telangiectasia Type III, Agyria and Retinal Dysplasia, Hydrocephalus Internal Hereditary Hyperuricemia and Choreoathetosis Syndrome, Dandy-Walker Type, Hydrocephalus Noncommunicating Hereditary Leptocytosis Major, Hereditary Leptocytosis Dandy-Walker Type, Hydrocephaly, Hydronephrosis With Minor, Hereditary Lymphedema, Hereditary Lymphedema Peculiar Facial Expression, Hydroxylase Deficiency, Tarda, Hereditary Lymphedema Type I, Hereditary Lymphe Hygroma Colli, Hyper-IgE Syndrome, Hyper IgM Syn dema Type II, Hereditary Motor Sensory Neuropathy, drome, Hyperaldosteronism, Hyperaldosteronism With Hereditary Motor Sensory Neuropathy I, Hereditary Motor Hypokalemic Alkatosis, Hyperaldosteronism Without Sensory Neuropathy Type III, Hereditary Nephritis, Heredi Hypertension, Hyperammonemia, Hyperammonemia Due US 2007/01 35335 A1 Jun. 14, 2007 to Carbamylphosphate Synthetase Deficiency, Hyperam IC, I-Cell Disease, ICD, ICE Syndrome Cogan-Reese Type, monemia Due to Ornithine Transcarbamylase Deficiency, Icelandic Type Amyloidosis (Type VI), I-Cell Disease, Ich Hyperammonemia Type II, Hyper-Beta Carnosinemia, thyosiform Erythroderma Corneal Involvement and Deaf Hyperbilirubinemia I, Hyperbilirubinemia II, Hypercalce ness, Ichthyosiform Erythroderma Hair Abnormality mia Familial with Nephrocalcinosis and Indicanuria, Hyper Growth and Men, Ichthyosiform Erythroderma with Leuko calcemia-Supravalvar Aortic Stenosis, Hypercalciuric Rick cyte Vacuolation, Ichthyosis, Ichthyosis Congenita, Ichthyo ets, Hypercapnic acidosis, Hypercatabolic Protein-Losing sis Congenital with Trichothiodystrophy, Ichthyosis Hystrix, Enteropathy, Hyperchloremic acidosis, Hypercholester Ichthyosis Hystrix Gravior, Ichthyosis Linearis Circum olemia, Hypercholesterolemia Type IV. Hyperchylomicron flexa, Ichthyosis Simplex, Ichthyosis Tay Syndrome, Ich emia, Hypercystinuria, Hyperekplexia, Hyperextensible thyosis Vulgaris, Ichthyosis Vulgaris, Ichthyotic Neutral joints, Hyperglobulinemic Purpura, Hyperglycinemia with Lipid Storage Disease, Icteric Leptospirosis, Icterohemor Ketoacidosis and Lactic Acidosis Propionic Type, Hyperg rhagic Leptospirosis, Icterus (Chronic Familial), Icterus lycinemia Nonketotic, Hypergonadotropic Hypogonadism, Gravis Neonatorum, Icterus Intermittens Juvenalis, Idio Hyperimmunoglobulin E Syndrome, Hyperimmunoglobulin pathic Alveolar Hypoventilation, Idiopathic Amyloidosis, E-Recurrent Infection Syndrome, Hyperimmunoglobuline Idiopathic Arteritis of Takayasu, Idiopathic Basal Ganglia mia E-Staphylococcal, Hyperkalemia, Hyperkinetic Syn Calcification (IBGC), Idiopathic Brachial Plexus Neuropa drome, Hyperlipemic Retinitis, Hyperlipidemia I, Hyperlipi thy, Idiopathic Cervical Dystonia, Idiopathic Dilatation of demia IV, Hyperlipoproteinemia Type I. the Pulmonary Artery, Idiopathic Dilatation of the Pulmo Hyperlipoproteinemia Type III, Hyperlipoproteinemia Type nary Artery, Idiopathic Facial Palsy, Idiopathic Familial IV. Hyperoxaluria, Hyperphalangy-Clinodactyly of Index Hyperlipemia, Idiopathic Hypertrophic Subaortic Stenosis, Finger with Pierre Robin Syndrome, Hyperphenylalanemia, Idiopathic Hypoproteinemia, Idiopathic Immunoglobulin Hyperplastic Epidermolysis Bullosa, Hyperpnea, Hyperpo Deficiency, Idiopathic Neonatal Hepatitis, Idiopathic Non tassemia, Hyperprebeta-Lipoproteinemia, Hyperprolinemia Specific Ulcerative Colitis, Idiopathic Non-Specific Ulcer Type I, Hyperprolinemia Type II, Hypersplenism, Hyperte ative Colitis, Idiopathic Peripheral Periphlebitis, Idiopathic lorism with Esophageal Abnormalities and Hypospadias, Pulmonary Fibrosis, Idiopathic Refractory Sideroblastic Hypertelorism-Hypospadias Syndrome, Hypertrophic Car Anemia, Idiopathic Refractory Sideroblastic Anemia, Idio dio myopathy, Hypertrophic Interstitial Neuropathy, Hyper pathic Renal Hematuria, Idiopathic Steatorrhea, Idiopathic trophic Interstitial Neuritis, Hypertrophic Interstitial Thrombocythemia, Idiopathic Thrombocytopenic Purpura, Radiculoneuropathy, Hypertrophic Neuropathy of Refsum, Idiopathic Thrombocytopenia Purpura (ITP), IDPA, IgA Hypertrophic Obstructive Cardiomyopathy, Hyperuricemia Nephropathy, IgA Nephropathy, IHSS, Ileitis, Ileocolitis, Choreoathetosis Self-multilation Syndrome, Hyperurice Illinois Type Amyloidosis, ILS, IM, IMD2, IMD5, IMD5, mia-Oligophrenia, Hypervalinemia, Hypocalcified (Hypom Immune Defect due to Absence of Thymus, Immune ineralized) Type, Hypochondrogenesis, Hypochrondropla Hemolytic Anemia Paroxysmal Cold, Immunodeficiency sia, Hypogammaglobulinemia, Hypogammaglobulinemia with Ataxia Telangiectasia, Immunodeficiency Cellular with Transient of Infancy, Hypogenital Dystrophy with Diabetic Abnormal Immunoglobulin Synthesis, Immunodeficiency Tendency, Hypoglossia-Hypodactylia Syndrome, Hypogly Common Variable Unclassifiable. Immunodeficiency with cemia, Hypoglycemia, Exogenous Hypoglycemia, Hypogly Hyper-IgM, Immunodeficiency with Leukopenia, Immuno cemia with Macroglossia, Hypoglycosylation Syndrome deficiency-2, Immunodeficiency-5 (IMD5). Immunoglobu Type 1a, Hypoglycosylation Syndrome Type 1a, Hypogo lin Deficiency, Imperforate Anus, Imperforate Anus with nadism with Anosmia, Hypogonadotropic Hypogonadism Hand Foot and Ear Anomalies, Imperforate Nasolacrimal and Anosmia, Hypohidrotic Ectodermal Dysplasia, Hypo Duct and Premature Aging Syndrome, Impotent Neutrophil hidrotic Ectodermal Dysplasia Autosomal Dominant type, Syndrome, Inability To Open Mouth Completely And Short Hypohidrotic Ectodermal Dysplasias Autorecessive, Finger-Flexor, INAD. Inborn Error of Urea Synthesis Argi Hypokalemia, Hypokalemic Alkalosis with Hypercalciuria, nase Type, Inborn Error of Urea Synthesis Arginino Succinic Hypokalemic Syndrome, Hypolactasia, Hypomaturation Type, Inborn Errors of Urea Synthesis Carbamyl Phosphate Type (Snow-Capped Teeth), Hypomelanosis of Ito, Type, Inborn Error of Urea Synthesis Citrullinemia Type, Hypomelia-Hypotrichosis-Facial Hemangioma Syndrome, Inborn Errors of Urea Synthesis Glutamate Synthetase Type, Hypomyelination Neuropathy, Hypoparathyroidism, Hypo INCL, Inclusion body myositis, Incomplete Atrioventricular phosphatasia, Hypophosphatemic Rickets with Hypercalce Septal Defect, Incomplete Testicular Feminization, Incom mia, Hypopigmentation, Hypopigmentation, Hypopig plete Testicular Feminization, Incontinentia Pigmenti, mented macular lesion, Hypoplasia of the Depressor Anguli Incontinentia Pigmenti, Incontinenti Pigmenti Achromians, Oris Muscle with Cardiac Defects, Hypoplastic Anemia, Index Finger Anomaly with Pierre Robin Syndrome, Indiana Hypoplastic Congenital Anemia, Hypoplastic Chondrodys Type Amyloidosis (Type II), Indolent systemic mastocyto trophy, Hypoplastic Enamel-Onycholysis-Hypohidrosis, sis, Infantile Acquired Aphasia, Infantile Autosomal Reces Hypoplastic (Hypoplastic-Explastic) Type, Hypoplastic Left sive Polycystic Kidney Disease, Infantile Beriberi, Infantile Heart Syndrome, Hypoplastic Left Heart Syndrome, Hypo Cerebral Ganglioside, Infantile Cerebral Ganglioside, Infan plastic-Triphalangeal Thumbs, Hypopotassemia Syndrome, tile Cerebral Paralysis, Infantile Cystinosis, Infantile Epi Hypospadias-Dysphagia Syndrome, Hyposmia, Hypotha leptic, Infantile Fanconi Syndrome with Cystinosis, Infantile lamic Hamartoblastoma Hypopituitarism Imperforate Anus Finnish Type Neuronal Ceroid Lipofuscinosis, Infantile Polydactyly, Hypothalamic Infantilism-Obesity, Hypothy Gaucher Disease, Infantile Hypoglycemia, Infantile roidism, Hypotonia-Hypomentia-Hypogonadism-Obesity Hypophasphatasia, Infantile Lobar Emphysema, Infantile Syndrome, Hypoxanthine-Guanine Phosphoribosyltran Myoclonic Encephalopathy, Infantile Myoclonic Encephal ferase Defect (Complete Absense of), I-Cell Disease, Iatro opathy and Polymyoclonia, Infantile Myofibromatosis, genic Hypoglycemia, IBGC, IBIDS Syndrome, IBM, IBS, Infantile Necrotizing Encephalopathy, Infantile Neuronal US 2007/01 35335 A1 Jun. 14, 2007 22

Ceroid Lipofuscinosis, Infantile Neuroaxonal Dystrophy, Macular Degeneration, Juvenile Pernicious Anemia, Juve Infantile Onset Schindler Disease, Infantile Phytanic Acid nile Retinoschisis, Juvenile Rheumatoid Arthritis, Juvenile Storage Disease, Infantile Refsum Disease (IRD), Infantile Rheumatoid Arthritis, Juvenile Spinal Muscular Atrophy Sipoidosis GM-2 Gangliosideosis (Type S), Infantile Sipoi Included, Juvenile Spinal Muscular Atrophy ALS Included, dosis GM-2 Gangliosideosis (Type S, Infantile Sleep Apnea, Juvenile Spinal Muscular Atrophy Type III, Juxta-Articular Infantile Spasms, Infantile Spinal Muscular Atrophy (all Adiposis Dolorosa, Juxta-Articular Adiposis Dolorosa, types), Infantile Spinal Muscular Atrophy ALS, Infantile Juxtaglomerular Hyperplasia, Kabuki Make-Up Syndrome, Spinal Muscular Atrophy Type I, Infantile Type Neuronal Kahler Disease, Kallmann Syndrome, Kanner Syndrome, Ceroid Lipofuscinosis, Infectious Jaundice, Inflammatory Kanzaki Disease, Kaposi Disease (not Kaposi Sarcoma), Breast Cancer, Inflammatory Linear Nevus Sebaceous Syn Kappa Light Chain Deficiency, Karsch-Neugebauer Syn drome. Iniencephaly, Insulin Resistant Acanthosis Nigri drome, Karsch-Neugebauer Syndrome, Kartagener Syn cans, Insulin Lipodystrophy, Insulin dependent Diabetes, drome-Chronic Sinobronchial Disease and Dextrocardia, Intention Myoclonus, Intermediate Cystinosis, Intermediate Kartagener Triad, Kasabach-Merritt Syndrome, Kast Syn Maple Syrup Urine Disease, Intermittent Ataxia with Pyru drome, Kawasaki Disease, Kawasaki Syndrome, KBG Syn vate Dehydrogenase Deficiency, Intermittent Ataxia with drome, KD, Kearns-Sayre Disease, Kearns-Sayre Syn Pyruvate Dehydrogenase Deficiency, Intermittent Maple drome, Kearns-Sayre Syndrome, Kennedy Disease, Syrup Urine Disease, Internal Hydrocephalus, Interstitial Kennedy Syndrome, Kennedy Type Spinal and Bulbar Mus Cystitis, Interstitial Deletion of 4q Included, Interstitial cular Atrophy, Kennedy-Stefanis Disease, Kenny Disease, Deletion of 4q-Included, Intestinal Lipodystrophy, Intestinal Kenny Syndrome, Kenny Type Tubular Stenosis, Kenny Lipophagic Granulomatosis, Intestinal Lymphangiectasia, Caffe Syndrome, Kera. Palmoplant. Con. Pes Planus Ony. Intestinal Polyposis I, Intestinal Polyposis II, Intestinal Periodon. Arach. Keratitis Ichthyosis Deafness Syndrome, Polyposis II, Intestinal Polyposis III, Intestinal Polyposis Keratoconus, Keratoconus Posticus Circumscriptus, Kera Cutaneous Pigmentation Syndrome, Intestinal Polyposis tolysis, Keratolysis Exfoliativa Congenita, Keratolytic Win Cutaneous Pigmentation Syndrome, Intestinal Pseudoob ter Erythema, Keratomalacia, Keratosis Follicularis, Kera struction with External Ophthalmoplegia, Intracranial tosis Follicularis Spinulosa Decalvans, Keratosis Neoplasm, Intracranial Tumors, Intracranial Vascular Mal Follicularis Spinulosa Decalvans Ichthyosis, Keratosis Nig formations, Intrauterine Dwarfism, Intrauterine Synechiae, ricans, Keratosis Palmoplantaris with Periodontopathia and Inverted Smile And Occult Neuropathic Bladder, Iowa Type Onychogryposis, Keratosis Palmoplantaris Congenital Pes Amyloidosis (Type IV), IP, IPA, Iridocorneal Endothelial Planus Onychogryposis Periodontosis Arachnodactyly, Syndrome, Iridocorneal Endothelial (ICE) Syndrome Keratosis Palmoplantaris Congenital, Pes Planus, Ony Cogan-Resse Type, Iridogoniodysgenesis With Somatic chogryphosis, Periodontosis, Arachnodactyly, Acroosteoly Anomalies, Iris Atrophy with Corneal Edema and Glau sis, Keratosis Rubra Figurata, Keratosis Seborrheica, coma, Iris Nevus Syndrome, Iron Overload Anemia, Iron Ketoacid Decarboxylase Deficiency, Ketoaciduria, Ketotic Overload Disease, Irritable Bowel Syndrome, Irritable Glycinemia, Ketotic Glycinemia, KFS, KID Syndrome, Colon Syndrome, Isaacs Syndrome, Isaacs-Merten Syn Kidney Agenesis, Kidneys Cystic-Retinal Aplasia Joubert drome, Ischemic Cardio myopathy, Isolated Lissencephaly Syndrome, Killian Syndrome, Killian/Teschler-Nicola Syn Sequence, Isoleucine 33 Amyloidosis, Isovaleric Acid CoA drome, Kiloh-Nevin syndrome III, Kinky Hair Disease, Dehydrogenase Deficiency, Isovaleric Acidaemia, Isovaleri Kinsbourne Syndrome, Kleeblattschadel Deformity, Kleine cacidemia, Isovaleryl CoA Carboxylase Deficiency, ITO Levin Syndrome, Kleine-Levin Hibernation Syndrome, Hypomelanosis, ITO, ITP, IVA, Ivemark Syndrome, Iwanoff Klinefelter, Klippel-Feil Syndrome, Klippel-Feil Syndrome Cysts, Jackknife Convulsion, Jackson-Weiss Craniosynos Type I, Klippel-Feil Syndrome Type II, Klippel-Feil Syn tosis, Jackson-Weiss Syndrome, Jacksonian Epilepsy, Jacob drome Type III, Klippel Trenaunay Syndrome, Klippel Sen Syndrome, Jadassohn-Lewandowsky Syndrome, Jaffe Trenaunay-Weber Syndrome, Kluver-Bucy Syndrome, Lichenstein Disease, Jakob's Disease, Jakob-Creutzfeldt KMS, Kniest Dysplasia, Kniest Syndrome, Kobner's Dis Disease, Janeway I, Janeway Dysgammaglobulinemia, Jan ease, Koebberling-Dunnigan Syndrome, Kohlmeier-Degos sen Metaphyseal Dysostosis, Jansen Type Metaphyseal Disease, Kok Disease, Korsakoff Psychosis, Korsakoffs Chondrodysplasia, Jarcho-Levin Syndrome, Jaw-Winking, Syndrome, Krabbe's Disease Included, Krabbe's Leukod JBS, JDMS, Jegher's Syndrome, Jegher's Syndrome, Jeju ystrophy, Kramer Syndrome, KSS, KTS, KTW Syndrome, nal Atresia, Jeunitis, Jejunoileitis, Jervell and Lange Kufs Disease, Kugelberg-Welander Disease, Kugelberg-We Nielsen Syndrome, Jeune Syndrome, JMS, Job Syndrome, lander Disease, Kugelberg-Welander Syndrome, Kugelberg Job-Buckley Syndrome, Johanson-Blizzard Syndrome, John Welander Syndrome, Kussmaul-Landry Paralysis, KWS, Dalton, Johnson-Stevens Disease, Jonston's Alopecia, L-3-Hydroxy-Acyl-CoA Dehydrogenase (LCHAD) Defi Joseph’s Disease, Joseph's Disease Type I, Joseph's Disease ciency, Laband Syndrome, Labhart-Willi Syndrome, Laby Type II, Joseph’s Disease Type III, Joubert Syndrome, rinthine Syndrome, Labyrinthine Hydrops, Lacrimo-Au Joubert-Bolthauser Syndrome, JRA, Juberg Hayward Syn riculo-Dento-Digital Syndrome, Lactase Isolated drome, Juberg-Marsidi Syndrome, Juberg-Marsidi Mental Intolerance, Lactase Deficiency, Lactation-Uterus Atrophy, Retardation Syndrome, Jumping Frenchmen, Jumping Lactic Acidosis Leber Hereditary Optic Neuropathy, Lactic Frenchmen of Maine, Juvenile Arthritis, Juvenile Arthritis, and Pyruvate Acidemia with Carbohydrate Sensitivity, Lac Juvenile Autosomal Recessive Polycystic Kidney Disease, tic and Pyruvate Acidemia with Episodic Ataxia and Weak Juvenile Cystinosis, Juvenile (Childhood) Dermatomyositis ness, Lactic and Pyruvate Acidemia with Carbohydrate (JDMS), Juvenile Diabetes, Juvenile Gaucher Disease, Juve Sensitivity, Lactic and Pyruvate, Lactic acidosis, Lactose nile Gout Choreoathetosis and Mental Retardation Syn Intolerance of Adulthood, Lactose Intolerance, Lactose drome, Juvenile Intestinal Malabsorption of Vit B12, Juve Intolerance of Childhood, Lactose Intolerance, LADD Syn nile Intestinal Malabsorption of Vitamin B12, Juvenile drome, LADD, Lafora Disease Included, Lafora Body Dis US 2007/01 35335 A1 Jun. 14, 2007

ease, Laki-Lorand Factor Deficiency, LAM, Lambert Type LIS, LIS1, Lissencephaly 1, Lissencephaly Type I, Lissen Ichthyosis, Lambert-Eaton Syndrome, Lambert-Eaton cephaly variants with agenesis of the corpus callosum cer Myasthenic Syndrome, Lamellar Recessive Ichthyosis, ebellar hypoplasia or other anomalies, Little Disease, Liver Lancereaux-Mathieu-Weil Spirochetosis, Landau-Kleffner Phosphorylase Deficiency, LKS, LM Syndrome, Lobar Syndrome, Landouzy Deerine Muscular Dystrophy, Landry Atrophy, Lobar Atrophy of the Brain, Lobar Holoprosen Ascending Paralysis, Langer-Salidino Type Achondrogensis cephaly, Lobar Tension Emphysema in Infancy, Lobstein (Type II), Langer Giedion Syndrome, Langerhans-Cell Disease (Type I), Lobster Claw Deformity, Lobster Claw Granulomatosis, Langerhans-Cell Histiocytosis (LCH), Deformity, Localized Epidermolysis Bullosa, Localized Large Atrial and Ventricular Defect, Laron Dwarfism, Laron Lipodystrophy, Localized Neuritis of the Shoulder Girdle, Type Pituitary Dwarfism, Larsen Syndrome, Laryngeal Dys Loeffler's Disease, Loeffler Endomyocardial Fibrosis with tonia, Latah (Observed in Malaysia), Late Infantile Neu Eosinophilia, Loeffler Fibroplastic Parietal Endocarditis, roaxonal Dystrophy, Late Infantile Neuroaxonal Dystrophy, Loken Syndrome, Loken-Senior Syndrome, Long-Chain Late Onset Cockayne Syndrome Type III (Type C). Late 3-hydroxyacyl-CoA Dehydrogenase (LCHAD), Long Chain Onset Dystonia, Late-Onset Immunoglobulin Deficiency, Acyl CoA Dehydrogenase Deficiency, Long-Chain Acyl Late-Onset Immunoglobulin Deficiency, Late Onset Peliza CoA Dehydrogenase (ACADL), Long-Chain Acyl-CoA eus-Merzbacher Brain Sclerosis, Lattice Corneal Dystrophy, Dehydrogenase Deficiency, Long QT Syndrome without Lattice Dystrophy, Launois-Bensaude, Launois-Cleret Syn Deafness, Lou Gehrig's Disease, Lou Gehrig's Disease drome, Laurence Syndrome, Laurence-Moon Syndrome, Included, Louis-Bar Syndrome, Low Blood Sugar, Low Laurence-Moon/Bardet-Biedl, Lawrence-Seip Syndrome, Density Beta Lipoprotein Deficiency, Low Imperforate LCA, LCAD Deficiency, LCAD, LCADH Deficiency, LCH, Anus, Low Potassium Syndrome, Lowe's Syndrome, Lowe LCHAD, LCPD, Le Jeune Syndrome, Leband Syndrome, Bickel Syndrome, Lowe-Terry-MacLachlan Syndrome, LS, Leber's Amaurosis, Leber's Congenital Amaurosis, Con LTD, Lubs Syndrome, Luft Disease, Lumbar Canal Steno genital Absence of the Rods and Cones, Leber's Congenital sis, Lumbar Spinal Stenosis, Lumbosacral Spinal Stenosis, Tapetoretinal Degeneration, Leber's Congenital Tapetoreti Lundborg-Unverricht Disease, Lundborg-Unverricht Dis nal Dysplasia, Leber's Disease, Leber's Optic Atrophy, ease Included, Lupus, Lupus Erythematosus, Luschka-Ma Leber's Optic Neuropathy, Left Ventricular Fibrosis, Leg gendie Foramina Atresia, Lyell Syndrome, Lyelles Syn Ulcer, Legg-Calve-Perthes Disease, Leigh's Disease, drome, Lymphadenoid Goiter, Lymphangiectatic Protein Leigh's Syndrome, Leigh's Syndrome (Subacute Necrotiz Losing Enteropathy, Lymphangioleiomatosis, ing Encephalomyelopathy), Leigh Necrotizing Encephal Lymphangioleimyomatosis, Lymphangiomas, Lymphatic opathy, Lennox-Gastaut Syndrome, Lentigio-Polypose-Di Malformations, Lynch Syndromes, Lynch Syndrome I, gestive Syndrome, Lentigio-Polypose-Digestive Syndrome, Lynch Syndrome II, Lysosomal Alpha-N-Acetylgalac Lenz, Dysmorphogenetic Syndrome, Lenz, Dysplasia, Lenz tosaminidase Deficiency Schindler Type, Lysosomal Gly Microphthalmia Syndrome, Lenz, Syndrome, LEOPARD coaminoacid Storage Disease-Angiokeratoma Corporis Dif Syndrome, Leprechaunism, Leprechaunism, Leptom fusum, Lysosomal Glucosidase Deficiency, Lysosomal eningeal Angiomatosis, Leptospiral Jaundice, Leri-Weill Glucosidase Deficiency, MAA, Machado Disease, Disease, Leri-Weil Dyschondrosteosis, Leri-Weil Syn Machado-Joseph Disease, Macrencephaly, Macrocephaly, drome, LermoyeZ Syndrome, Leroy Disease, Lesch Nyhan Macrocephaly Hemihypertrophy, Macrocephaly with Mul Syndrome, Lethal Infantile Cardio myopathy, Lethal Neo tiple Lipomas and Hemangiomata, Macrocephaly with natal Dwarfism, Lethal Osteochondrodysplasia, Letterer Pseudopapilledema and Multiple Hemangiomata, Macro Siwe Disease, Leukocytic Anomaly Albinism, Leukocytic globulinemia, Macroglossia, Macroglossia-Omphalocele Inclusions with Platelet Abnormality, Leukodystrophy, Leu Visceromegaly Syndrome, Macrostomia Ablepheron Syn kodystrophy with Rosenthal Fibers, Leukoencephalitis Peri drome, Macrothrombocytopenia Familial Bernard-Soulier axialis Concentric, Levine-Critchley Syndrome, Levulo Type, Macula Lutea degeneration, Macular Amyloidosis, suria, Levy-Hollister Syndrome, LGMD, LGS, LHON, LIC, Macular Degeneration, Macular Degeneration Disciform, Lichen Ruber Acuminatus, Lichen Acuminatus, Lichen Macular Degeneration Senile, Macular Dystrophy, Macular Amyloidosis, Lichen Planus, Lichen Psoriasis, Lignac-De Type Corneal Dystrophy, MAD, Madelung’s Disease, Maf bre-Fanconi Syndrome, Lignac-Fanconi Syndrome, Ligne fucci Syndrome, Major Epilepsy, Malabsorption, Malab ous Conjunctivitis, Limb-Girdle Muscular Dystrophy, Limb Sorption-Ectodermal Dysplasia-Nasal Alar Hypoplasia, Girdle Muscular Dystrophy, Limb Malformations-Dento Maladie de Roger, Maladie de Tics, Male Malformation of Digital Syndrome, Limit Dextrinosis, Linear Nevoid Hyper Limbs and Kidneys, Male Turner Syndrome, Malignant melanosis, Linear Nevus Sebacous Syndrome, Linear Scle Acanthosis, Malignant Acanthosis Nigricans, Malignant roderma, Linear Sebaceous Nevus Sequence, Linear Astrocytoma, Malignant Atrophic Papulosis, Malignant Sebaceous Nevus Syndrome, Lingua Fissurata, Lingua Pli Fever, Malignant Hyperphenylalaninemia, Malignant cata, Lingua Scrotalis, Linguofacial Dyskinesia, Lip Hyperpyrexia, Malignant Hyperthermia, Malignant Mela Pseudocleft-hemangiomatous Branchial Cyst Syndrome, noma, Malignant Tumors of the Central Nervous System, Lipid Granulomatosis, Lipid Histiocytosis, Lipid Kerasin Mallory-Weiss Laceration, Mallory-Weiss Tear, Mallory Type, Lipid Storage Disease, Lipid-Storage myopathy Asso Weiss Syndrome, Mammary Paget’s Disease, Mandibular ciated with SCAD Deficiency, Lipidosis Ganglioside Infan Ameloblastoma, Mandibulofacial Dysostosis, Mannosido tile, Lipidosis Ganglioside Infantile, Lipoatrophic Diabetes sis, Map-Dot-Fingerprint Type Corneal Dystrophy, Maple Mellitus, Lipodystrophy, Lipoid Corneal Dystrophy, Lipoid Syrup Urine Disease, Marble Bones, Marchiafava-Micheli Hyperplasia-Male Pseudohermaphroditism, Lipoid Hyper Syndrome, Marcus Gunn Jaw-Winking Syndrome, Marcus plasia-Male Pseudohermaphroditism, Lipomatosis of Pan Gunn Phenomenon, Marcus Gunn Ptosis with jaw-winking, creas Congenital, Lipomucopolysaccharidosis Type I, Lipo Marcus Gunn Syndrome, Marcus Gunn (Jaw-Winking) Syn myelomeningocele, Lipoprotein Lipase Deficiency Familial, drome, Marcus Gunn Ptosis (with jaw-winking), Marden US 2007/01 35335 A1 Jun. 14, 2007 24

Walker Syndrome, Marden-Walker Type Connective Tissue ria With Muscular Dystrophy, Microtia Absent Patellae Disorder, Marfan's Abiotrophy, Marfan-Achard syndrome, Micrognathia Syndrome, Microvillus Inclusion Disease, Marfan Syndrome, Marfan's Syndrome I, Marfan's Variant, MID, Midsystolic-click-late systolic murmur syndrome, Marfan-Achard syndrome, Marfanoid Hypermobility Syn Miescher's Type I Syndrome, Mikulicz. Syndrome, Miku drome, Marginal Corneal Dystrophy, Marie’s Ataxia, Marie licz-Radecki Syndrome, Mikulicz-Sjogren Syndrome, Mild Disease, Marie-Sainton Disease, Marie Strumpell Disease, Autosomal Recessive, Mild Intermediate Maple Syrup Marie-Strumpell Spondylitis, Marinesco-Sjogren Syn Urine Disease, Mild Maple Syrup Urine Disease, Miller drome, Marinesco-Sjogren-Gorland Syndrome, Marker X Syndrome, Miller-Dieker Syndrome, Miller-Fisher Syn Syndrome, Maroteaux Lamy Syndrome, Maroteaux Type drome, Milroy Disease, Minkowski-Chauffard Syndrome, Acromesomelic Dysplasia, Marshall's Ectodermal Dyspla Minor Epilepsy, Minot-Von Willebrand Disease, Mirror sias With Ocular and Hearing Defects, Marshall-Smith Syn Image Dextrocardia, Mitochondrial Beta-Oxidation Disor drome, Marshall Syndrome, Marshall Type Deafness-Myo ders, Mitrochondrial and Cytosolic, Mitochondrial Cytopa pia-Cataract-Saddle Nose, Martin-Albright Syndrome, thy, Mitochondrial Cytopathy, Kearn-Sayre Type, Martin-Bell Syndrome, Martorell Syndrome, MASA Syn Mitochondrial Encephalopathy, Mitochondrial Encephalo drome, Massive Myoclonia, Mast Cell Leukemia, Mastocy myopathy Lactic Acidosis and Strokelike Episodes, Mito tosis, Mastocytosis With an Associated Hematologic Disor chondrial myopathy, Mitochondrial myopathy Encephalopa der, Maumenee Corneal Dystrophy, Maxillary thy Lactic Acidosis Stroke-Like Episode, Mitochondrial Ameloblastoma, Maxillofacial Dysostosis, Maxillonasal PEPCK Deficiency, Mitral-valve prolapse, Mixed Apnea, Dysplasia, Maxillonasal Dysplasia Binder Type, Maxillo Mixed Connective Tissue Disease, Mixed Connective Tissue palpebral Synkinesis, May-Hegglin Anomaly, MCAD Defi Disease, Mixed Hepatic Porphyria, Mixed Non-Fluent ciency, MCAD, McArdle Disease, McCune-Albright, MCD, Aphasia, Mixed Sleep Apnea, Mixed Tonic and Clonic McKusick Type Metaphyseal Chondrodysplasia, McKusick Torticollis, MJD, MKS, MLI, ML II, ML II, ML III, ML IV. Type Metaphyseal Chondrodysplasia, MCR, MCTD, ML Disorder Type I, ML Disorder Type II, ML Disorder Meckel Syndrome, Meckel-Gruber Syndrome, Median Cleft Type III, ML Disorder Type IV, MLNS, MMR Syndrome, Face Syndrome, Mediterranean Anemia, Medium-Chain MND, MNGIE, MNS, Mobitz I, Mobitz II, Mobius Syn Acyl-CoA dehydrogenase (ACADM), Medium Chain Acyl drome, Moebius Syndrome, Moersch-Woltmann Syndrome, CoA Dehydrogenase (MCAD) Deficiency, Medium-Chain Mohr Syndrome, Monilethrix, Monomodal Visual Amnesia, Acyl-CoA Dehydrogenase Deficiency, Medium Chain Acyl Mononeuritis Multiplex, Mononeuritis Peripheral, Monon CoA Dehydrogenase Deficiency, Medullary Cystic Disease, europathym Peripheral, Monosomy 3p2, Monosomy 9p Par Medullary Cystic Disease, Medullary Sponge Kidney, MEF, tial, Monosomy 11q Partial, Monosomy 13q Partial, Mono Megaesophagus, Megalencephaly, Megalencephaly with somy 18q Syndrome, Monosomy X, Monostotic Fibrous Hyaline Inclusion, Megalencephaly with Hyaline Panneur Dysplasia, Morgagni-Turner-Albright Syndrome, Morphea, opathy, Megaloblastic Anemia, Megaloblastic Anemia of Morquio Disease, Morquio Syndrome, Morquio Syndrome Pregnancy, Megalocornea-Mental Retardation Syndrome, A. Morquio Syndrome B. Morquio-Brailsford Syndrome, Meier-Gorlin Syndrome, Meige's Lymphedema, Meige's Morvan Disease, Mosaic Tetrasomy 9p, Motor Neuron Dis Syndrome, Melanodermic Leukodystrophy, Melanoplakia ease, Motor Neuron Syndrome, Motor Neurone Disease, Intestinal Polyposis, Melanoplakia-Intestinal Polyposis, Motoneuron Disease, Motoneurone Disease, Motor System MELAS Syndrome, MELAS, Melkersson Syndrome, Disease (Focal and Slow), Moya-moya Disease, Moyamoya Melnick-Fraser Syndrome, Melnick-Needles Osteodys Disease, MPS, MPS I, MPS I H, MPS 1 H/S Hurler/Scheie plasty, Melnick-Needles Syndrome, Membranous Lipodys Syndrome, MPS IS Scheie Syndrome, MPS II, MPS IIA, trophy, Mendes Da Costa Syndrome, Méniere's Disease, MPS IIB, MPS II-AR Autosomal Recessive Hunter Syn Meningeal Capillary Angiomatosis, Menkes Disease, Men drome, MPS II-XR, MPS II-XR Severe Autosomal Reces ke's Syndrome I, Mental Retardation Aphasia Shuffling Gait sive, MPS III, MPS III A B C and D Sanfiloppo A, MPS IV, Adducted Thumbs (MASA), Mental Retardation-Deafness MPS IV A and B Morquio A, MPS V, MPS VI, MPS VI Skeletal Abnormalities-Coarse Face with Full Lips, Mental Severe Intermediate Mild Maroteaux-Lamy, MPS VII, MPS Retardation with Hypoplastic 5th Fingernails and Toenails, VII Sly Syndrome, MPS VIII, MPS Disorder, MPS Disorder Mental Retardation with Osteocartilaginous Abnormalities, I, MPS Disorder II, MPS Disorder III, MPS Disorder VI, Mental Retradation-X-linked with Growth Delay-Deafness MPS Disorder Type VII, MRS, MS, MSA, MSD, MSL, Microgenitalism, Menzel Type OPCA, Mermaid Syndrome, MSS, MSUD, MSUD Type Ib, MSUD Type II, Mucocuta MERRF, MERRF Syndrome, Merten-Singleton Syndrome, neous Lymph Node Syndrome, Mucolipidosis I, Mucolipi MES, Mesangial IGA Nephropathy, Mesenteric Lipodystro dosis II, Mucolipidosis III, Mucolipidosis IV. Mucopolysac phy, Mesiodens-Cataract Syndrome, Mesodermal Dysmor charidosis, Mucopolysaccharidosis I-H, phodystrophy, Mesomelic Dwarfism-Madelung Deformity, Mucopolysaccharidosis I-S, Mucopolysaccharidosis II, Metabolic Acidosis, Metachromatic Leukodystrophy, Meta Mucopolysaccharidosis III, Mucopolysaccharidosis IV. tarsus Varus, Metatropic Dwarfism Syndrome, Metatropic Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Dysplasia, Metatropic Dysplasia I, Metatropic Dysplasia II, Mucopolysaccharidosis Type I. Mucopolysaccharidosis Methylmalonic Acidemia, Methylmalonic Aciduria, Meu Type II, Mucopolysaccharidosis Type III, Mucopolysaccha lengracht's Disease, MFD1, MG, MH, NHA, Micrenceph ridosis Type VII, Mucosis, Mucosulfatidosis, Mucous Coli aly, Microcephalic Primordial Dwarfism I, Microcephaly, tis, Mucoviscidosis, Mulibrey Dwarfism, Mulibrey Nanism Microcephaly-Hiatal Hernia-Nephrosis Galloway Type, Syndrome, Mullerian Duct Aplasia-Renal Aplasia-Cervico Microcephaly-Hiatal Hernia-Nephrotic Syndrome, Micro thoracic Somite Dysplasia, Mullerian Duct-Renal-Cervico cystic Corneal Dystrophy, Microcythemia, Microlissen thoracic-Upper Limb Defects, Mullerian Duct and Renal cephaly, Microphthalmia, Microphthalmia, Microphthalmia Agenesis with Upper Limb and R1b Anomalies, Mullerian or Anophthalmos with Associated Anomalies, Micropolygy Renal-Cervicothoracic Somite Abnormalities, Multi-Infarct US 2007/01 35335 A1 Jun. 14, 2007

Dementia Binswanger's Type, Multicentric Castleman's genesis and Hypodontia, Nail-Patella Syndrome, Nance Disease, Multifocal Eosinophilic Granuloma, Multiple Horan Syndrome, Nanocephalic Dwarfism, Nanocephaly, Acyl-CoA Dehydrogenase Deficiency, Multiple Acyl-CoA Nanophthalmia, Narcolepsy, Narcoleptic syndrome, NARP, Dehydrogenase Deficiency, Multiple Acyl-CoA Dehydroge Nasal-fronto-faciodysplasia, Nasal Alar Hypoplasia nase Deficiency/Glutaric Aciduria Type II, Multiple Angio Hypothyroidism Pancreatic Achylia Congenital Deafness, mas and Endochondromas, Multiple Carboxylase Defi Nasomaxillary Hypoplasia, Nasu Lipodystrophy, NBIA1, ciency, Multiple Cartilaginous Enchondroses, Multiple ND, NDI, NDP. Necrotizing Encephalomyelopathy of Cartilaginous Exostoses, Multiple Enchondromatosis, Mul Leigh's, Necrotizing Respiratory Granulomatosis, Neill tiple Endocrine Deficiency Syndrome Type II, Multiple Dingwall Syndrome, Nelson Syndrome, Nemaline myopa Epiphyseal Dysplasia, Multiple Exostoses, Multiple Exos thy, Neonatal Adrenoleukodystrophy (NALD), Neonatal toses Syndrome, Multiple Familial Polyposis, Multiple Len Adrenoleukodystrophy (ALD), Neonatal Autosomal Reces tigines Syndrome, Multiple Myeloma, Multiple Neuritis of sive Polycystic Kidney Disease, Neonatal Dwarfism, Neo the Shoulder Girdle, Multiple Osteochondromatosis, Mul natal Hepatitis, Neonatal Hypoglycemia, Neonatal Lactose tiple Peripheral Neuritis, Multiple Polyposis of the Colon, Intolerance, Neonatal Lymphedema due to Exudative Enter Multiple Pterygium Syndrome, Multiple Sclerosis, Multiple opathy, Neonatal Progeroid Syndrome, Neonatal Pseudo Sulfatase Deficiency, Multiple Symmetric Lipomatosis, Hydrocephalic Progeroid Syndrome of Wiedemann-Rauten Multiple System Atrophy, Multisynostotic Osteodysgenesis, strauch, Neoplastic Arachnoiditis, Nephroblastom, Multisynostotic Osteodysgenesis with Long Bone Fractures, Nephrogenic Diabetes Insipidus, Nephronophthesis Familial Mulvihill-Smith Syndrome, MURCS Association, Murk Juvenile, Nephronophthesis Familial Juvenile, Nephro Jansen Type Metaphyseal Chondrodysplasia, Muscle Car pathic Cystinosis, Nephropathy-Pseudohermaphroditism nitine Deficiency, Muscle Core Disease, Muscle Phosphof Wilms Tumor, Nephrosis-Microcephaly Syndrome, Neph ructokinase Deficiency, Muscular Central Core Disease, rosis-Neuronal Dysmigration Syndrome, Nephrotic Muscular Dystrophy, Muscular Dystrophy Classic X-linked Glycosuric-Dwarfism-Rickets-Hypophosphatemic Recessive, Muscular Dystrophy Congenital With Central Syndrome, Netherton Disease, Netherton Syndrome, Neth Nervous System Involvement, Muscular Dystrophy Con erton Syndrome Ichthyosis, Nettleship Falls Syndrome genital Progressive with Mental Retardation, Muscular Dys (X-Linked), Neu-Laxova Syndrome, Neuhauser Syndrome, trophy Facioscapulohumeral, Muscular Rheumatism, Mus Neural-tube defects, Neuralgic Amyotrophy, Neuralgic cular Rigidity Progressive Spasm, Musculoskeletal Pain Amyotrophy, Neuraminidase Deficiency, Neuraocutaneous Syndrome, Mutilating Acropathy, Mutilating Acropathy, melanosis, Neurinoma of the Acoustic Nerve, Neurinoma, Mutism, mvp, MVP. MWS, Myasthenia Gravis, Myasthenia Neuroacanthocytosis, Neuroaxonal Dystrophy Schindler Gravis, Myasthenia Gravis Pseudoparalytica, Myasthenic Type, Neurodegeneration with brain iron accumulation type Syndrome of Lambert-Eaton, Myelinoclastic Diffuse Scle 1 (NBIA1), Neurofibroma of the Acoustic Nerve, Neuro rosis, Myelomatosis, Myhre Syndrome, Myoclonic Astatic genic Arthrogryposis Multiplex Congenita, Neuromyelitis Petit Mal Epilepsy, Myoclonic Dystonia, Myoclonic Optica, Neuromyotonia, Focal, Neuromyotonia, General Encephalopathy of Infants, Myoclonic Epilepsy, Myoclonic ized, Familial, Neuromytonia, Generalized, Sporadic, Neu Epilepsy Hartung Type, Myoclonus Epilepsy Associated ronal Axonal Dystrophy Schindler Type, Neuronal Ceroid with Ragged Red Fibers, Myoclonic Epilepsy and Ragged Lipofuscinosis Adult Type, Neuronal Ceroid Lipofuscinosis Red Fiber Disease, Myoclonic Progressive Familial Epi Juvenile Type, Neuronal Ceroid Lipofuscinosis Type 1, lepsy, Myoclonic Progressice Familial Epilepsy, Myoclonic Neuronopathic Acute Gaucher Disease, Neuropathic Amy Seizure, Myoclonus, Myoclonus Epilepsy, Myoencephal loidosis, Neuropathic Beriberi, Neuropathy Ataxia and opathy Ragged-Red Fiber Disease, Myofibromatosis, Myo Retinitis Pigmentosa, Neuropathy of Brachialpelxus Syn fibromatosis Congenital, Myogenic Facio-Scapulo-Peroneal drome, Neuropathy Hereditary Sensory Type I, Neuropathy Syndrome, Myoneurogastointestinal Disorder and Encepha Hereditary Sensory Type II, Neutral Lipid Storage Disease, lopathy, Myopathic Arthrogryposis Multiplex Congenita, Nevii, Nevoid Basal Cell Carcinoma Syndrome. Nevus, Myopathic Carnitine Deficiency, myopathy Central Fibrillar, Nevus Cavernosus, Nevus Comedonicus, Nevus Depigmen myopathy Congenital Nonprogressive, myopathy Congeni tosus, Nevus Sebaceous of Jadassohn, Nezelof's Syndrome, tal Nonprogressive with Central Axis, myopathy with Defi Nezelofs Thymic Aplasia, Nezelof Type Severe Combined ciency of Carnitine Palmitoyltransferase, myopathy-Mari Immunodeficiency, NF, NF1, NF2, NF-1, NF-2, NHS, nesco-Sjogren Syndrome, myopathy-Metabolic Carnitine Niemann Pick Disease, Nieman Pick disease Type A (acute Palmitoyltransderase Deficiency, myopathy Mitochondrial neuronopathic form), Nieman Pick disease Type B, Nieman Encephalopathy-Lactic Acidosis-Stroke, myopathy with Pick Disease Type C (chronic neuronopathic form), Nieman Sarcoplasmic Bodies and Intermediate Filaments, Myophos Pick disease Type D (Nova Scotia variant), Nieman Pick phorylase Deficiency, Myositis Ossificans Progressiv, Myo disease Type E, Nieman Pick disease Type F (sea-blue tonia Atrophica, Myotonia Congenita, Myotonia Congenita histiocyte disease), Night Blindness, Nigrospinodentatal Intermittens, Myotonic Dystrophy, Myotonic myopathy Degeneration, Niikawakuroki Syndrome, NLS, NM, Noack Dwarfism Chondrodystrophy Ocular and Facial Anomalies, Syndrome Type I, Nocturnal Myoclonus Hereditary Essen Myotubular myopathy, Myotubular myopathy X-linked, tial Myoclonus, Nodular Cornea Degeneration, Non-Bullous My proic Acid, Myriachit (Observed in Siberia), Myxedema, CIE, Non-Bullous Congenital Ichthyosiform Erythroderma, N-Acetylglucosamine-1-Phosphotransferase Deficiency, Non-Communicating Hydrocephalus, Non-Deletion Type N-Acetyl Glutamate Synthetase Deficiency, NADH-CoQ Alpha-Thalassemia/Mental Retardation syndrome. Non-Ke reductasedeficiency, Naegeli Ectodermal Dysplasias, Nager tonic Hyperglycinemia Type I (NKHI), Non-Ketotic Hyper Syndrome, Nager Acrofacial Dysostosis Syndrome, Nager glycinemia, Non-Lipid Reticuloendotheliosis, Non-Neu Acrofacial Dysostosis Syndrome, Nager Syndrome, NAGS ronopathic Chronic Adult Gaucher Disease, Non-Scarring Deficiency, Nail Dystrophy-Deafness Syndrome, Nail Dys Epidermolysis Bullosa, Nonarteriosclerotic Cerebral Calci US 2007/01 35335 A1 Jun. 14, 2007 26 fications, Nonarticular Rheumatism, Noncerebral, Juvenile neuromyelitis, Optic Atrophy Polyneuropathy and Deafness, Gaucher Disease. Nondiabetic Glycosuria, Nonischemic Optic Neuroencephalomyelopathy, Optic Neuromyelitis, Cardio myopathy, Nonketotic Hypoglycemia and Carnitine Opticomyelitis, Optochiasmatic Arachnoiditis, Oral-Facial Deficiency due to MCAD Deficiency, Nonketotic Hypogly Clefts, Oral-facial Dyskinesia, Oral Facial Dystonia, Oral cemia Caused by Deficiency of Acyl-CoA Dehydrogenase, Facial-Digital Syndrome, Oral-Facial-Digital Syndrome Nonketotic Glycinemia, Nonne’s Syndrome. Nonne-Mil Type I, Oral-Facial-Digital Syndrome II, Oral-Facial-Digital roy-Meige Syndrome. Nonopalescent Opalescent Dentine, Syndrome III, Oral-Facial-Digital Syndrome IV. Orbital Nonpuerperal Galactorrhea-Amenorrhea, Nonsecretory Cyst with Cerebral and Focal Dermal Malformations, Orni Myeloma, Nonspherocytic Hemolytic Anemia, Nontropical thine Carbamyl Transferase Deficiency, Ornithine Transcar Sprue, Noonan Syndrome, Norepinephrine, Normal Pres bamylase Deficiency, Orocraniodigital Syndrome, Orofacio sure Hydrocephalus, Norman-Roberts Syndrome, Norrbott digital Syndrome, Oromandibular Dystonia, Orthostatic nian Gaucher Disease, Norrie Disease, Norwegian Type Hypotension, Osler-Weber-Rendu disease, Osseous-Oculo Hereditary Cholestasis, NPD, NPS, NS, NSA, Nuchal Dys Dento Dysplasia, Osseous-Oculo-Dento Dysplasia, Osteitis tonia Dementia Syndrome, Nutritional Neuropathy, Nyhan deformans, Osteochondrodystrophy Deformans, Osteochon Syndrome, OAV Spectrum, Obstructive Apnea, Obstructive droplasia, Osteodysplasty of Melnick and Needles, Osteo Hydrocephalus, Obstructive Sleep Apnea, OCC Syndrome, genesis Imperfect, Osteogenesis Imperfecta, Osteogenesis Occlusive Thromboaortopathy, OCCS, Occult Intracranial Imperfecta Congenita, Osteogenesis Imperfecta Tarda, Vascular Malformations, Occult Spinal Dysraphism Osteohypertrophic Nevus Flammeus, Osteopathia Hyperos Sequence, Ochoa Syndrome, Ochronosis, Ochronotic totica Scleroticans Multiplex Infantalis, Osteopathia Hyper Arthritis, OCR, OCRL, Octocephaly, Ocular Albinism, Ocu ostotica Scleroticans Multiplex Infantalis, Osteopathyrosis, lar Herpes, Ocular Myasthenia Gravis, Oculo-Auriculo Osteopetrosis, Osteopetrosis Autosomal Dominant Adult Vertebral Dysplasia, Oculo-Auriculo-Vertebral Spectrum, Type, Osteopetrosis Autosomal Recessive Malignant Infan Oculo-Bucco-Genital Syndrome, Oculocerebral Syndrome tile Type, Osteopetrosis Mild Autosomal Recessive Inter with Hypopigmentation, Oculocerebrocutaneous Syndrome, mediate Typ, Osteosclerosis Fragilis Generalisata, Osteo Oculo-Cerebro-Renal, Oculocerebrorenal Dystrophy, Ocu sclerotic Myeloma, Ostium Primum Defect (endocardial locerebrorenal Syndrome, Oculocraniosomatic Syndrome cushion defects included), Ostium Secundum Defect, OTC (obsolete), Oculocutaneous Albinism, Oculocutaneous Albi Deficiency, Oto Palato Digital Syndrome, Oto-Palato-Digi nism Chediak-Higashi Type, Oculo-Dento-Digital Dyspla tal Syndrome Type I, Oto-Palatal-Digital Syndrome Type II, sia, Oculo-Dento-Digital Dysplasia, Oculodentodigital Syn Otodental Dysplasia, Otopalatodigital Syndrome, Otopala drome, Oculo-Dento-Osseous Dysplasia, Oculo-Dento taldigital Syndrome Type II, Oudtshoorn Skin, Ovarian Osseous Dysplasia, Oculo Gastrointestinal Muscular Dwarfism Turner Type, Ovary Aplasia Turner Type, OWR, Dystrophy, Oculo Gastrointestinal Muscular Dystrophy, Oxalosis, Oxidase deficiency, Oxycephaly, Oxycephaly, Oculogastrointestinal Muscular Dystrophy, Oculomandibu Oxycephaly-Acrocephaly, P-V, PA, PAC, Pachyonychia Ich lodyscephaly with hypotrichosis, Oculomandibulofacial tyosiforme, Pachyonychia Congenita with Natal Teeth, Syndrome, Oculomotor with Congenital Contractures and Pachyonychia Congenita, Pachyonychia Congenita Kerato Muscle Atrophy, Oculosympathetic Palsy, ODD Syndrome, sis Disseminata Circumscripta (follicularis), Pachyonychia ODD Syndrome, ODOD, Odontogenic Tumor, Odontotri Congenita Jadassohn-Lewandowsky Type, PAF with MSA, chomelic Syndrome, OFD, OFD Syndrome, Ohio Type Paget’s Disease, Paget’s Disease of Bone, Paget’s Disease Amyloidosis (Type VII), OI, OI Congenita, OI Tarda, Old of the Breast, Paget’s Disease of the Nipple, Paget’s Disease field Syndrome, Oligohydramnios Sequence, Oligophrenia of the Nipple and Areola, Pagon Syndrome, Painful Oph Microphthalmos, Oligophrenic Polydystrophy, Olivoponto thalmoplegia, PAIS, Palatal Myoclonus, Palato-Oto-Digital cerebellar Atrophy, Olivopontocerebellar Atrophy, Olivop Syndrome, Palatal-Oto-Digital Syndrome Type I, Palatal ontocerebellar Atrophy with Dementia and Extrapyramidal Oto-Digital Syndrome Type II, Pallister Syndrome, Pallis Signs, Olivopontocerebellar Atrophy with Retinal Degen ter-Hall Syndrome, Pallister-Killian Mosaic Syndrome, Pal eration, Olivopontocerebellar Atrophy I, Olivopontocerebel lister Mosaic Aneuploidy, Pallister Mosaic Syndrome, lar Atrophy II, Olivopontocerebellar Atrophy III, Olivopon Pallister Mosaic Syndrome Tetrasomy 12p. Pallister-W Syn tocerebellar Atrophy IV. Olivopontocerebellar Atrophy V. drome, Palmoplantar Hyperkeratosis and Alopecia, Palsy, Ollier Disease, Ollier Osteochondromatosis, Omphalocele Pancreatic Fibrosis, Pancreatic Insufficiency and Bone Mar Visceromegaly-Macroglossia Syndrome, Ondine's Curse, row Dysfunction, Pancreatic Ulcerogenic Tumor Syndrome, Onion-Bulb Neuropathy, Onion Bulb Polyneuropathy, Ony Panmyelophthisis, Panmyelopathy, Pantothenate kinase choosteodysplasia, Onychotrichodysplasia with Neutrope associated neurodegeneration (PKAN), Papillon-Lefevre nia, OPCA, OPCAI, OPCA II, OPCA III, OPCA IV, OPCA Syndrome, Papillotonic Psuedotabes, Paralysis Periodica V. OPD Syndrome, OPD Syndrome Type I, OPD Syndrome Paramyotonica, Paralytic Beriberi, Paralytic Brachial Neu Type II, OPD I. Syndrome, OPD II Syndrome, Ophthalmoar ritis, Paramedian Lower Lip Pits-Popliteal Pyerygium Syn thropathy, Ophthalmoplegia-Intestinal Pseudoobstruction, drome, Paramedian Diencephalic Syndrome, Paramyeloido Ophthalmoplegia, Pigmentary Degeneration of the Retina sis, Paramyoclonus Multiple, Paramyotonia Congenita, and Cadio myopathy, Ophthalmoplegia Plus Syndrome, Paramyotonia Congenita of Von Eulenburg, Parkinson's Ophthalmoplegia Syndrome, Opitz BBB Syndrome, Opitz disease, Paroxysmal Atrial Tachycardia, Paroxysmal Cold BBB/G Compound Syndrome, Opitz BBBG Syndrome, Hemoglobinuria, Paroxysmal Dystonia, Paroxysmal Dysto Opitz-Frias Syndrome, Opitz, G. Syndrome, Opitz G/BBB nia Choreathetosis, Paroxysmal Kinesigenic Dystonia, Par Syndrome, Opitz Hypertelorism-Hypospadias Syndrome, oxysmal Nocturnal Hemoglobinuria, Paroxysmal Normal Opitz-Kaveggia Syndrome, Opitz, Oculogenitolaryngeal Hemoglobinuria, Paroxysmal Sleep, Parrot Syndrome, Parry Syndrome, Opitz Trigonocephaly Syndrome, Opitz Syn Disease, Parry-Romberg Syndrome, Parsonage-Turner Syn drome, OpSoclonus, OpSoclonus-Myoclonus, Opthalmo drome, Partial Androgen Insensitivity Syndrome, Partial US 2007/01 35335 A1 Jun. 14, 2007 27

Deletion of the Short Arm of Chromosome 4, Partial Dele asis Pilaris, Pityriasis Rubra Pilaris, PJS, PJS, PKAN, PKD, tion of the Short Arm of Chromosome 5, Partial Deletion of PKD1, PKD2, PKD3, PKU, PKU1, Plagiocephaly, Plasma Short Arm of Chromosome 9, Partial Duplication 3q Syn Cell Myeloma, Plasma Cell Leukemia, Plasma Thrombo drome, Partial Duplication 15q Syndrome, Partial Facial plastin Component Deficiency, Plasma Transglutaminase Palsy With Urinary Abnormalities, Partial Gigantism of Deficiency, Plastic Induration Corpora Cavernosa, Plastic Hands and Feet-Nevi-Hemihypertrophy-Macrocephaly, Par Induration of the Penis, PLD, Plicated Tongue, PLS, PMD, tial Lipodystrophy, Partial Monosomy of Long Arm of Pneumorenal Syndrome, PNH, PNM, PNP Deficiency, Chromosome 11, Partial Monosomy of the Long Arm of POD, POH, Poikiloderma Atrophicans and Cataract, Poiki Chromosome 13, Partial Spinal Sensory Syndrome, Partial loderma Congenitale, Poland Anomaly, Poland Sequence, Trisomy 11q, Partington Syndrome, PAT. Patent Ductus Poland Syndactyly, Poland Syndrome, Poliodystrophia Arteriosus, Pathological Myoclonus, Pauciarticular-Onset Cerebri Progressiva, Polyarthritis Enterica, Polyarteritis Juvenile Arthritis, Pauciarticular-Onset Juvenile Arthritis, Nodosa, Polyarticular-Onset Juvenile Arthritis Type I, Pol Paulitis, PBC, PBS, PC Deficiency, PC Deficiency Group A, yarticular-Onset Juvenile Arthritis Type II, Polyarticular PC Deficiency Group B, PC, Eulenburg Disease, PCC Onset Juvenile Arthritis Types I and II, Polychondritis, Deficiency, PCH, PCLD, PCT, PD, PDA, PDH Deficiency, Polycystic Kidney Disease, Polycystic Kidney Disease Pearson Syndrome Pyruvate Carboxylase Deficiency, Pedi Medullary Type, Polycystic Kidney Disease Medullary atric Obstructive Sleep Apnea, Peeling Skin Syndrome, Type, Polycystic Liver Disease, Polycystic Ovary Disease, Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher Brain Polycystic Renal Diseases, Polydactyly-Joubert Syndrome, Sclerosis, Pelizaeus-Merzbacher Brain Sclerosis, Pellagra Polydysplastic Epidermolysis Bullosa, Polydystrophia Oli Cerebellar Ataxia-Renal Aminoaciduria Syndrome, Pelvic gophrenia, Polydystrophic Dwarfism, Polyglandular Pain Syndrome, Pemphigus Vulgaris, Pena Shokeir II Syn Autoimmune Syndrome Type III, Polyglandular Autoim drome, Pena Shokeir Syndrome Type II, Penile Fibromato mune Syndrome Type II, Polyglandular Autoimmune Syn sis, Penile Fibrosis, Penile Induration, Penta X Syndrome, drome Type I, Polyglandular Autoimmune Syndrome Type Pentalogy of Cantrell, Pentalogy Syndrome, Pentasomy X, II, Polyglandular Deficiency Syndrome Type II, Polyglan PEPCK Deficiency, Pepper Syndrome, Perheentupa Syn dular Syndromes, Polymorphic Macula Lutea Degeneration, drome, Periarticular Fibrositis, Pericardial Constriction with Polymorphic Macular Degeneration, Polymorphism of Growth Failure, Pericollagen Amyloidosis, Perinatal Poly Platelet Glycoprotien Ib, Polymorphous Corneal Dystrophy cystic Kidney Diseases, Perineal Anus, Periodic Amyloid Hereditary, Polymyalgia Rheumatica, Polymyalgia Rheu Syndrome, Periodic Peritonitis Syndrome, Periodic Somno matica, Polymyositis and Dermatomyositis Primary Agam lence and Morbid Hunger, Periodic Syndrome, Peripheral mag-lobulinemi, Polyneuritis Peripheral, Polyneuropathy Cystoid Degeneration of the Retina, Peripheral Dysostosis Deafness-Optic Atrophy, Polyneuropathy Peripheral, Nasal Hypoplasia-Mental Retardation, Peripheral Neuritis, Polyneuropathy and Polyradiculoneuropathy, Polyostotic Peripheral Neuropathy, Peritoneopericardial Diaphragmatic Fibrous Dysplasia, Polyostotic Sclerosing Histiocytosis, Hernia, Pernicious Anemia, Pernicious Anemia, Pernicious Polyposis Familial, Polyposis Gardner Type, Polyposis Anemia, Peromelia with Micrognathia, Peroneal Muscular Hamartomatous Intestinal, Polyposis Hamartomatous Intes Atrophy, Peroneal Nerve Palsy, Peroutka Sneeze, Peroxiso tinal, Polyposis-Osteomatosis-Epidermoid Cyst Syndrome, mal Acyl-CoA Oxidase, Peroxisomal Beta-Oxidation Dis Polyposis Skin Pigmentation Alopecia and Fingernail orders, Peroxisomal Bifunctional Enzyme, Peroxisomal Changes, Polyps and Spots Syndrome, Polyps and Spots Thiolase, Peroxisomal Thiolase Deficiency, Persistent Trun Syndrome, Polyserositis Recurrent, Polysomy Y. Polysyn cus Arteriosus, Perthes Disease, Petit Mal Epilepsy, Petit dactyly with Peculiar Skull Shape, Polysyndactyly-Dysmor Mal Variant, Peutz-Jeghers Syndrome, Peutz-Jeghers Syn phic Craniofacies Greig Type, Pompe Disease, Pompe Dis drome, Peutz-Touraine Syndrome, Peutz-Touraine Syn ease, Popliteal Pterygium Syndrome, Porcupine Man, drome, Peyronie Disease, Pfeiffer, Pfeiffer Syndrome Type I, Porencephaly, Porencephaly, Porphobilinogen deaminase PGA I, PGA II, PGA III, PGK, PH Type I, PH Type I, (PBG-D), Porphyria, Porphyria Acute Intermittant, Por Pharyngeal Pouch Syndrome, PHD Short-Chain Acyl-CoA phylia Acute Intermittent, Porphyria ALA-D, Porphyria Dehydrogenase Deficiency, Phenylalanine Hydroxylase Cutanea Tarda, Porphyria Cutanea Tarda, Porphyria Cutanea Deficiency, Phenylalaninemia, Phenylketonuria, Phenylke Tarda Hereditaria, Porphyria Cutanea Tarda Symptomatica, tonuria, Phenylpyruvic Oligophrenia, Phocomelia, Phoc Porphyria Hepatica Variegate, Porphyria Swedish Type, omelia Syndrome, Phosphoenolpyruvate Carboxykinase Porphyria Variegate, Porphyriam Acute Intermittent, Por Deficiency, Phosphofructokinase Deficiency, Phosphoglyc phyrins, Porrigo Decalvans, Port Wine Stains, Portuguese erate Kinase Deficiency, Phosphoglycerokinase, Phospho Type Amyloidosis, Post-Infective Polyneuritis, Postanoxic rylase 6 Kinase Deficiency, Phosphorylase Deficiency Gly Intention Myoclonus, Postaxial Acrofacial Dysostosis, Post cogen Storage Disease, Phosphorylase Kinase Deficiency of axial Polydactyly, Postencephalitic Intention Myoclonus, Liver, Photic Sneeze Reflex, Photic Sneezing, Photothera Posterior Corneal Dystrophy Hereditary, Posterior Thalamic peutic keratectomy, PHS, Physicist John Dalton, Phytanic Syndrome, Postmyelographic Arachnoiditis, Postnatal Cere Acid Storage Disease, Pi Phenotype ZZ, PI, Pick Disease of bral Palsy, Postoperative Cholestasis, Postpartum Galactor the Brain, Pick's Disease, Pick's Disease, Pickwickian Syn rhea-Amenorrhea Syndrome, Postpartum Hypopituitarism, drome, Pierre Robin Anomalad, Pierre Robin Complex, Postpartum Panhypopituitary Syndrome, Postpartum Pan Pierre Robin Sequence, Pierre Robin Syndrome, Pierre hypopituitarism, Postpartum Pituitary Necrosis, Postural Robin Syndrome with Hyperphalangy and Clinodactyly, Hypotension, Potassium-Losing Nephritis, Potassium Loss Pierre-Marie's Disease, Pigmentary Degeneration of Globus Syndrome, Potter Type I Infantile Polycystic Kidney Dis Pallidus Substantia Nigra Red Nucleus, Pili Torti and Nerve eases, Potter Type III Polycystic Kidney Disease, PPH, PPS, Deafness, Pili Torti-Sensorineural Hearing Loss, Pituitary Prader-Willi Syndrome, Prader-Labhart-Willi Fancone Syn Dwarfism II, Pituitary Tumor after Adrenalectomy, Pityri drome, Prealbumin Tyr-77 Amyloidosis, Preexcitation Syn US 2007/01 35335 A1 Jun. 14, 2007 28 drome, Preexcitation Syndrome, Pregnenolone Deficiency, ciency, Pterygium, Pterygium Colli Syndrome, Pterygium Premature Atrial Contractions, Premature Senility Syn Universale, Pterygolymphangiectasia, Pulmonary Atresia, drome, Premature Supraventricular Contractions, Premature Pulmonary Lymphangiomyomatosis, Pulmonary Stenosis, Ventricular Complexes, Prenatal or Connatal Neuroaxonal Pulmonic Stenosis-Ventricular Septal Defect, Pulp Stones, Dystrophy, Presenile Dementia, Presenile Macula Lutea Pulpal Dysplasia, Pulseless Disease, Pure Alymphocytosis, Retinae Degeneration, Primary Adrenal Insufficiency, Pri Pure Cutaneous Histiocytosis, Purine Nucleoside Phospho mary Agammaglobulinemias, Primary Aldosteronism, Pri rylase Deficiency, Purpura Hemorrhagica, Purtilo Syn mary Alveolar Hypoventilation, Primary Amyloidosis, Pri drome, PXE, PXE Dominant Type, PXE Recessive Type, mary Anemia, Primary Anemia, Primary Beriberi, Primary Pycnodysostosis, Pyknodysostosis, Pyknoepilepsy, Pyro Biliary, Primary Biliary Cirrhosis, Primary Brown Syn glutamic Aciduria, Pyroglutamicaciduria, Pyrroline Car drome, Primary Carnitine Deficiency, Primary Central boxylate Dehydrogenase Deficiency, Pyruvate Carboxylase Hypoventilation Syndrome, Primary Ciliary Dyskinesia Deficiency, Pyruvate Carboxylase Deficiency Group A, Kartagener Type, Primary Cutaneous Amyloidosis, Primary Pyruvate Carboxylase Deficiency Group B, Pyruvate Dehy Dystonia, Primary Failure Adrenocortical Insufficiency, Pri drogenase Deficiency, Pyruvate Dehydrogenase Deficiency, mary Familial Hypoplasia of the Maxilla, Primary Hemo Pyruvate Dehydrogenase Deficiency, Pyruvate Kinase Defi chromatosis, Primary Hyperhidrosis, Primary Hyperox ciency, q25-qter, q26 or q27-qter, q31 or 32-qter, QT Pro aluria Type I, Primary Hyperoxaluria Type 1 (PH1). longation with Extracellular Hypohypocalcinemia, QT Pro Primary Hyperoxaluria Type 1, Primary Hyperoxaluria Type longation without Congenital Deafness, QT Prolonged with II, Primary Hyperoxaluria Type III, Primary Hypogonadism, Congenital Deafness, Quadriparesis of Cerebral Palsy, Primary Intestinal Lymphangiectasia, Primary Lateral Scle Quadriplegia of Cerebral Palsy, Quantal Squander, Quantal rosis, Primary Nonhereditary Amyloidosis, Primary Oblit Squander, ra, ré, r14, r 18, r21, r22, Rachischisis Posterior, erative Pulmonary Vascular Disease, Primary Progressive Radial Aplasia-Amegakaryocytic Thrombocytopenia, Multiple Sclerosis, Primary Pulmonary Hypertension, Pri Radial Aplasia-Thrombocytopenia Syndrome, Radial Nerve mary Reading Disability, Primary Renal Glycosuria, Pri Palsy, Radicular Neuropathy Sensory, Radicular Neuropathy mary Sclerosing Cholangitis, Primary Thrombocythemia, Sensory Recessive, Radicular Dentin Dysplasia, Rapid-on Primary Tumors of Central Nervous System, Primary Visual set Dystonia-parkinsonism, Rapp-Hodgkin Syndrome, Agnosia, Proctocolitis Idiopathic, Proctocolitis Idiopathic, Rapp-Hodgkin (hypohidrotic) Ectodermal Dysplasia Syn Progeria of Adulthood, Progeria of Childhood, Progeroid drome, Rapp-Hodgkin Hypohidrotic Ectodermal Dyspla Nanism, Progeriod Short Stature with Pigmented Nevi, sias, Rare hereditary ataxia with polyneuritic changes and Progeroid Syndrome of De Barsy, Progressive Autonomic deafness caused by a defect in the enzyme phytanic acid Failure with Multiple System Atrophy, Progressive Bulbar hydroxylase, Rautenstrauch-Wiedemann Syndrome, Rau Palsy, Progressive Bulbar Palsy Included, Progressive Car tenstrauch-Wiedemann Type Neonatal Progeria, Raynaud's diomyopathic Lentiginosis, Progressive Cerebellar Ataxia Phenomenon, RDP. Reactive Functional Hypoglycemia, Familial, Progressive Cerebral Poliodystrophy, Progressive Reactive Hypoglycemia Secondary to Mild Diabetes, Reces Choroidal Atrophy, Progressive Diaphyseal Dysplasia, Pro sive Type Kenny-Caffe Syndrome, Recklin Recessive Type gressive Facial Hemiatrophy, Progressive Familial Myo Myotonia Congenita, Recklinghausen Disease, Recto clonic Epilepsy, Progressive Hemifacial Atrophy, Progres perineal Fistula, Recurrent Vomiting, Reflex Neurovascular sive Hypoerythemia, Progressive Infantile Poliodystrophy, Dystrophy, Reflex Sympathetic Dystrophy Syndrome, Progressive Lenticular Degeneration, Progressive Lipodys Refractive Errors, Refractory Anemia, Refrigeration Palsy, trophy, Progressive Muscular Dystrophy of Childhood, Pro Refsum Disease, Refsum's Disease, Regional Enteritis, gressive Myoclonic Epilepsy, Progressive Osseous Hetero Reid-Barlow's syndrome, Reifenstein Syndrome, Reifen plasia, Progressive Pallid Degeneration Syndrome, stein Syndrome, Reiger Anomaly-Growth Retardation, Progressive Pallid Degeneration Syndrome, Progressive Reiger Syndrome, Reimann Periodic Disease, Reimann's Spinobulbar Muscular Atrophy, Progressive Supranuclear Syndrome, Reis-Bucklers Corneal Dystrophy, Reiter's Syn Palsy, Progressive Systemic Sclerosis, Progressive Tapeto drome, Reiter's Syndrome, Relapsing Guillain-Barre Syn choroidal Dystrophy, Proline Oxidase Deficiency, Propionic drome, Relapsing-Remitting Multiple Sclerosis, Renal Acidemia, Propionic Acidemia, Propionic Acidemia Type I Agenesis, Renal Dysplasia-Blindness Hereditary, Renal (PCCA Deficiency), Propionic Acidemia Type II (PCCB Dysplasia-Retinal Aplasia Loken-Senior Type, Renal Gly Deficiency), Propionyl CoA Carboxylase Deficiency, Pro cosuria, Renal Glycosuria Type A, Renal Glycosuria Type B, pionyl CoA Carboxylase Deficiency, Protanomaly, Protano Renal Glycosuria Type O, Renal-Oculocerebrodystrophy, pia, Protein-Losing Enteropathy Secondary to Congestive Renal-Retinal Dysplasia with Medullary Cystic Disease, Heart Failure, Proteus Syndrome, Proximal Deletion of 4q Renal-Retinal Dysplasia with Medullary Cystic Disease, Included, Proximal Deletion of 4q-Included, PRP PRS, Renal-Retinal Dystrophy Familial, Renal-Retinal Syn Prune Belly Syndrome, PS, Pseudo-Hurler Polydystrophy, drome, Rendu-Osler-Weber Syndrome, Respiratory Acido Pseudo-Polydystrophy, Pseudoacanthosis Nigricans, sis, Respiratory Chain Disorders, Respiratory Myoclonus, Pseudoachondroplasia, Pseudocholinesterase Deficiency, Restless Legs Syndrome, Restrictive Cardio myopathy, Pseudogout Familial, Pseudohemophilia, Pseudohermaph Retention Hyperlipemia, Rethore Syndrome (obsolete), roditism, Pseudohermaphroditism-Nephron Disorder Reticular Dysgenesis, Retinal Aplastic-Cystic Kidneys-Jou Wilm's Tumor, Pseudohypertrophic Muscular Dystrophy, bert Syndrome, Retinal Cone Degeneration, Retinal Cone Pseudohypoparathyroidism, Pseudohypophosphatasia, Dystrophy, Retinal Cone-Rod Dystrophy, Retinitis Pigmen Pseudopolydystrophy, Pseudothalidomide Syndrome, Pseu tosa, Retinitis Pigmentosa and Congenital Deafness, Ret doxanthoma Elasticum, Psoriasis, Psorospermosis Follicu inoblastoma, Retinol Deficiency, Retinoschisis, Retinoschi laris, PSP, PSS, Psychomotor Convulsion, Psychomotor sis Juvenile, Retraction Syndrome, Retrobulbar Neuropathy, Epilepsy, Psychomotor Equivalent Epilepsy, PTC Defi Retrolenticular Syndrome, Rett Syndrome, Reverse Coarc US 2007/01 35335 A1 Jun. 14, 2007 29 tion, Reye Syndrome, Reye's Syndrome, RGS, Rh Blood Type 2, SCI, D SCID, Scleroderma, Scleroderma, Sclerosis Factors, Rh Disease, Rh Factor Incompatibility, Rh Incom Familial Progressive Systemic, Sclerosis Diffuse Familial patibility, Rhesus Incompatibility, Rheumatic Fever, Rheu Brain, Scott Craniodigital Syndrome With Mental Retarda matoid Arthritis, Rheumatoid Myositis, Rhinosinusogenic tion, Scrotal Tongue, SCS, SD, SDS, SDYS, Seasonal Cerebral Arachnoiditis, Rhizomelic Chondrodysplasia Conjunctivitis, Sebaceous Nevus Syndrome, Sebaceous Punctata (RCDP), Acatalasemia, Classical Refsum disease, nevus, Seborrheic Keratosis, Seborrheic Warts, Seckel Syn RHS, Rhythmical Myoclonus, R1b Gap Defects with Micro drome, Seckel Type Dwarfism, Second Degree Congenital gnathia, Ribbing Disease (obsolete), Ribbing Disease, Rich Heart Block, Secondary Amyloidosis, Secondary Ble ner-Hanhart Syndrome, Rieger Syndrome, Rieter's Syn pharospasm, Secondary Non-tropical Sprue, Secondary drome, Right Ventricular Fibrosis, Riley-Day Syndrome, Brown Syndrome, Secondary Beriberi, Secondary General Riley-Smith syndrome, Ring Chromosome 14, Ring Chro ized Amyloidosis, Secondary Dystonia, Secretory Compo mosome 18, Ring 4, Ring 4 Chromosome, Ring 6. Ring 6 nent Deficiency, Secretory IgA Deficiency, SED Tarda, SED Chromosome, Ring 9, Ring 9 Chromosome R9, Ring 14. Congenital, SEDC, Segmental linear achromic nevus, Seg Ring 15, Ring 15 Chromosome (mosaic pattern), Ring 18, mental Dystonia, Segmental Myoclonus, Seip Syndrome, Ring Chromosome 18, Ring 21, Ring 21 Chromosome, Ring Seitelberger Disease, Seizures, Selective Deficiency of IgG 22, Ring 22 Chromosome, Ritter Disease, Ritter-Lyell Syn Subclasses, Selective Mutism, Selective Deficiency of IgG drome, RLS, RMSS, Roberts SC-Phocomelia Syndrome, Subclass, Selective IgM Deficiency, Selective Mutism, Roberts Syndrome, Roberts Tetraphocomelia Syndrome, Selective IgA Deficiency, Self-Healing Histiocytosis, Semi Robertson's Ectodermal Dysplasias, Robin Anomalad, lobar Holoprosencephaly, Seminiferous Tubule Dysgenesis, Robin Sequence, Robin Syndrome, Robinow Dwarfism, Senile Retinoschisis, Senile Warts, Senior-Loken Syndrome, Robinow Syndrome, Robinow Syndrome Dominant Form, Sensory Neuropathy Hereditary Type I, Sensory Neuropathy Robinow Syndrome Recessive Form, Rod myopathy, Roger Hereditary Type II, Sensory Neuropathy Hereditary Type I, Disease, Rokitansky's Disease, Romano-Ward Syndrome, Sensory Radicular Neuropathy, Sensory Radicular Neuropa Romberg Syndrome, Rootless Teeth, Rosenberg-Chutorian thy Recessive, Septic Progressive Granulomatosis, Septo Syndrome, Rosewater Syndrome, Rosewater Syndrome, Optic Dysplasia, Serous Circumscribed Meningitis, Serum Rosselli-Gulienatti Syndrome, Rothmund-Thomson Syn Protease Inhibitor Deficiency, Serum Carnosinase Defi drome, Roussy-Levy Syndrome, RP, RSX-Linked, RS, RS, ciency, Setleis Syndrome. Severe Combined Immunodefi RSDS, RSH Syndrome, RSS, RSTS, RTS, Rubella Con ciency, Severe Combined Immunodeficiency with Adenos genital, Rubinstein Syndrome, Rubinstein-Taybi Syndrome, ine Deaminase Deficiency, Severe Combined Rubinstein Taybi Broad Thumb-Hallux syndrome, Rufous Immunodeficiency (SCID), Sex Reversal, Sexual Infanti Albinism, Ruhr's Syndrome, Russells Diencephalic lism, SGB Syndrome. Sheehan Syndrome, Shields Type Cachexia, Russell's Syndrome, Russell Syndrome, Russell Dentinogenesis Imperfecta, Shingles, varicella-Zoster virus, Silver Dwarfism, Russell-Silver Syndrome, Russell-Silver Ship Beriberi, SHORT Syndrome, Short Arm 18 Deletion Syndrome X-linked, Ruvalcaba-Myhre-Smith syndrome Syndrome, Short Chain Acyl CoA Dehydrogenase Defi (RMSS), Ruvalcaba Syndrome, Ruvalcaba Type Osseous ciency, Short Chain Acyl-CoA Dehydrogenase (SCAD) Dysplasia with Mental Retardation, Sacral Regression, Sac Deficiency, Short Stature and Facial Telangiectasis, Short ral Agenesis Congenital, SAE, Saethre-Chotzen Syndrome, Stature Facial/Skeletal Anomalies-Retardation-Macrodon Sakati, Sakati Syndrome, Sakati-Nyhan Syndrome, Salaam tia, Short Stature-Hyperextensibility-Rieger Anomaly Spasms, Salivosudoriparous Syndrome, Salzman Nodular Teething Delay, Short Stature-Onychodysplasia, Short Stat Corneal Dystrophy, Sandhoff Disease, Sanfilippo Syndrome, ure Telangiectatic Erythema of the Face, SHORT Syndrome, Sanfilippo Type A, Sanfilippo Type B, Santavuori Disease, Shoshin Beriberi, Shoulder girdle syndrome, Shprintzen Santavuori-Haltia Disease, Sarcoid of Boeck, Sarcoidosis, Goldberg Syndrome, Shulman Syndrome, Shwachman-Bo Sathre-chotzen, Saturday Night Palsy, SBMA, SC Phocome dian Syndrome, Shwachman-Diamond Syndrome, Shwach lia Syndrome, SC Syndrome, SCA 3, SCAD Deficiency, man Syndrome, Shwachman-Diamond-Oski Syndrome, SCAD Deficiency Adult-Onset Localized, SCAD Defi Shwachmann Syndrome, Shy Drager Syndrome, Shy-Ma ciency Congenital Generalized, SCAD, SCADHDeficiency, gee Syndrome, SI Deficiency, Sialidase Deficiency, Sialido Scalded Skin Syndrome, Scalp Defect Congenital, Scapho sis Type I Juvenile, Sialidosis Type II Infantile, Sialidosis, cephaly, Scapula Elevata, Scapuloperoneal myopathy, Sialolipidosis, Sick Sinus Syndrome, Sickle Cell Anemia, Scapuloperoneal Muscular Dystrophy, Scapuloperoneal Sickle Cell Disease, Sickle Cell-Hemoglobin C Disease, Syndrome Myopathic Type, Scarring Bullosa, Scarring Sickle Cell-Hemoglobin D Disease, Sickle Cell-Thalas Bullosa, SCHAD, Schaumann's Disease, Scheie Syndrome, semia Disease, Sickle Cell Trait, Sideroblastic Anemias, Schereshevkii-Turner Syndrome, Schilder Disease, Schilder Sideroblastic Anemia, Sideroblastosis, Sideroblastosis, Encephalitis, Schilder's Disease, Schindler Disease Type I SIDS, Siegel-Cattan-Mamou Syndrome, Siemens-Bloch (Infantile Onset), Schindler Disease Infantile Onset, Schin type Pigmented Dermatosis, Siemens Syndrome, Siewer dler Disease, Schindler Disease Type II (Adult Onset), ling-Creutzfeldt Disease, Siewert Syndrome, Silver Syn Schinzel Syndrome, Schinzel-Giedion Syndrome, Schinzel drome, Silver-Russell Dwarfism, Silver-Russell Syndrome, Acrocallosal Syndrome, Schinzel-Giedion Midface-Retrac Simmond's Disease, Simons Syndrome, Simplex Epider tion Syndrome, Schizencephaly, Schmid Type Metaphyseal molysis Bullosa, Simpson Dysmorphia Syndrome, Simp Chondrodysplasia, Schmid Metaphyseal Dysostosis, son-Golabi-Behmel Syndrome, Sinding-Larsen-Johansson Schmid-Fraccaro Syndrome, Schmidt Syndrome, Schopf Disease, Singleton-Merten Syndrome, Sinus Arrhythmia, Schultz-Passarge Syndrome, Schueller-Christian Disease, Sinus Venosus, Sinus tachycardia, Sirenomelia Sequence, Schut-Haymaker Type, Schwartz-Jampel-Aberfeld Syn Sirenomelus, Situs Inversus Bronchiectasis and Sinusitis, drome, Schwartz-Jampel Syndrome Types 1A and 1B, SJA Syndrome, Sjogren Larsson Syndrome Ichthyosis, Schwartz-Jampel Syndrome, Schwartz-Jampel Syndrome Sjogren Syndrome, Sjogren Larsson Syndrome Ichthyosis, US 2007/01 35335 A1 Jun. 14, 2007 30

Sjögren's Syndrome, SJS, Skeletal dysplasia, Skeletal Dys Weber Syndrome, Sturge-Weber Phakomatosis, Subacute plasia Weismann Netter Stuhl Type, Skin Peeling Syndrome, Necrotizing Encephalomyelopathy, Subacute Spongiform Skin Neoplasms, Skull Asymmetry and Mild Retardation, Encephalopathy, Subacute Necrotizing Encephalopathy, Skull Asymmetry and Mild Syndactyly, SLE, Sleep Epi Subacute Sarcoidosis, Subacute Neuronopathic, Subaortic lepsy, Sleep Apnea, SLO, Sly Syndrome, SMA, SMA Infan Stenosis, Subcortical Arteriosclerotic Encephalopathy, Sub tile Acute Form, SMAI, SMA III, SMA type I, SMA type II, endocardial Sclerosis, Succinylcholine Sensitivity. Sucrase SMA type III, SMA3, SMAX1, SMCR, Smith Lemli Opitz Isomaltase Deficiency Congenital. Sucrose-Isomaltose Mal Syndrome, Smith Magenis Syndrome, Smith-Magenis absorption Congenital. Sucrose Intolerance Congenital, Chromosome Region, Smith-McCort Dwarfism, Smith Sudanophilic Leukodystrophy ADL, Sudanophilic Leukod Opitz-Inborn Syndrome, Smith Disease, Smoldering ystrophy Pelizaeus-Merzbacher Type, Sudanophilic Leu Myeloma, SMS, SNE, Sneezing From Light Exposure, kodystrophy Included, Sudden Infant Death Syndrome, Sodium valproate, Solitary Plasmacytoma of Bone, Sorsby Sudeck’s Atrophy, Sugio-Kajii Syndrome, Summerskill Disease, Sotos Syndrome, Souques-Charcot Syndrome, Syndrome, Summit Acrocephalosyndactyly, Summitt's South African Genetic Porphyria, Spasmodic Dysphonia, Acrocephalosyndactyly, Summitt Syndrome, Superior Spasmodic Torticollis, Spasmodic Wryneck, Spastic Cere Oblique Tendon Sheath Syndrome, Suprarenal glands, Sup bral Palsy, Spastic Colon, Spastic Dysphonia, Spastic ravalvular Aortic Stenosis, Supraventricular tachycardia, Paraplegia, SPD Calcinosis, Specific Antibody Deficiency Surdicardiac Syndrome, Surdocardiac Syndrome, SVT, with Normal Immunoglobulins, Specific Reading Disability, Sweat Gland Abscess, Sweating Gustatory Syndrome, SPH2, Spherocytic Anemia, Spherocytosis, Spherophakia Sweet Syndrome, Swiss Cheese Cartilage Syndrome, Syn Brachymorphia Syndrome, Sphingomyelin Lipidosis, Sph dactylic Oxycephaly, Syndactyly Type I with Microcephaly ingomyelinase Deficiency, Spider fingers, Spielmeyer-Vogt and Mental Retardation, Syndromatic Hepatic Ductular Disease, Spielmeyer-Vogt-Batten Syndrome, Spina Bifida, Hypoplasia, Syringomyelia, Systemic Aleukemic Reticu Spina Bifida, Spina Bifida Aperta, Spinal Arachnoiditis, loendotheliosis, Systemic Amyloidosis, Systemic Carnitine Spinal Arteriovenous Malformation, Spinal Ataxia Hered Deficiency, Systemic Elastorrhexis, Systemic Lupus Erythe itofamilial, Spinal and Bulbar Muscular Atrophy, Spinal matosus, Systemic Mast Cell Disease, Systemic Mastocy Diffuse Idiopathic Skeletal Hyperostosis, Spinal DISH, Spi tosis, Systemic-Onset Juvenile Arthritis, Systemic-Onset nal Muscular Atrophy, Spinal Muscular Atrophy All Types, Juvenile Arthritis, Systemic Sclerosis, Systopic Spleen, Spinal Muscular Atrophy Type ALS, Spinal Muscular Atro T-Lymphocyte Deficiency, Tachyalimentation Hypoglyce phy-Hypertrophy of the Calves, Spinal Muscular Atrophy mia, Tachycardia, Takahara syndrome, Takayasu Disease, Type I, Spinal Muscular Atrophy Type III, Spinal Muscular Takayasu Arteritis, Takayasu Arteritis, Talipes Calcaneus, Atrophy type 3, Spinal Muscular Atrophy-Hypertrophy of Talipes Equinovarus, Talipes Equinus, Talipes Varus, Talipes the Calves, Spinal Ossifying Arachnoiditis, Spinal Stenosis, Valgus, Tandem Spinal Stenosis, Tangier Disease, Tape Spino Cerebellar Ataxia, Spinocerebellar Atrophy Type I, toretinal Degeneration, TAR Syndrome, Tardive Dystonia, Spinocerebellar Ataxia Type I (SCA1), Spinocerebellar Tardive Muscular Dystrophy, Tardive Dyskinesia, Tardive Ataxia Type II (SCAII), Spinocerebellar Ataxia Type III Oral Dyskinesia, Tardive Dyskinesia, Tardive Dystonia, (SCAIII), Spinocerebellar Ataxia Type III (SCA3), Spinoc Tardy Ulnar Palsy, Target Cell Anemia, Tarsomegaly, Tarui erebellar Ataxia Type IV (SCAIV), Spinocerebellar Ataxia Disease, TAS Midline Defects Included, TAS Midline Type V (SCAV), Spinocerebellar Ataxia Type VI (SCAVI), Defect, Tay Sachs Disease, Tay Sachs Sphingolipidosis, Tay Spinocerebellar Ataxia Type VII (SCAVII), Spirochetal Sachs Disease, Tay Syndrome Ichthyosis, Tay Sachs Sph Jaundice, Splenic Agenesis Syndrome, Splenic Ptosis, Sple ingolipidosis, Tay Syndrome Ichthyosis, Taybi Syndrome noptosis, Split Hand Deformity-Mandibulofacial Dysosto Type I, Taybi Syndrome, TCD, TCOF1, TCS, TD, TDO sis, Split Hand Deformity-Mandibulofacial Dysostosis, Split Syndrome, TDO-I. TDO-II, TDO-III, Telangiectasis, Tele Hand Deformity, Split-Hand Deformity, Spondyloarthritis, canthus with Associated Abnormalities, Telecanthus With Spondylocostal Dysplasia Type I, Spondyloepiphyseal Associated Abnormalities, Telecanthus-Hypospadias Syn Dysplasia Tarda, Spondylothoracic Dysplasia, Spondylotic drome, Temporal Lobe Epilepsy, Temporal Arteritis/Giant Caudal Radiculopathy, Sponge Kidney, Spongioblastoma Cell Arteritis, Temporal Arteritis, TEN, Tendon Sheath Multiforme, Spontaneous Hypoglycemia, Sprengel Defor Adherence Superior Obliqu, Tension Myalgia, Terminal mity, Spring Ophthalmia, SRS, ST, Stale Fish Syndrome, Deletion of 4q Included, Terminal Deletion of 4q-Included, Staphyloccal Scalded Skin Syndrome, Stargardt’s Disease, Terrian Corneal Dystrophy, Teschler-Nicola/Killian Syn Startle Disease, Status Epilepticus, Steele-Richardson drome, Tethered Spinal Cord Syndrome, Tethered Cord Olszewski Syndrome, Steely Hair Disease, Stein-Leventhal Malformation Sequence, Tethered Cord Syndrome, Tethered Syndrome, Steinert Disease, Stengels Syndrome, Stengel Cervical Spinal Cord Syndrome, Tetrahydrobiopterin Defi Batten-Mayou-Spielmeyer-Vogt-Stock Disease, Stenosing ciencies, Tetrahydrobiopterin Deficiencies, Tetralogy of Fal Cholangitis, Stenosis of the Lumbar Vertebral Canal, Steno lot, Tetralogy of Fallot, Tetraphocomelia-Thrombocytopenia sis, Steroid Sulfatase Deficiency, Stevanovic's Ectodermal Syndrome, Tetrasomy Short Arm of Chromosome 9, Tetra Dysplasias, Stevens Johnson Syndrome, Stevens-Johnson somy 9p, Tetrasomy Short Arm of Chromosome 18, Tha Syndrome, STGD, Stickler Syndrome, Stickler Syndrome, lamic Syndrome, Thalamic Pain Syndrome, Thalamic Stiff-Man Syndrome, Stiff Person Syndrome, Still's Disease, Hyperesthetic Anesthesia, Thalassemia Intermedia, Thalas Stilling-Turk-Duane Syndrome, Stillis Disease, Stimulus semia Minor, Thalassemia Major. Thiamine Deficiency, Sensitive Myoclonus, Stone Man Syndrome, Stone Man, Thiamine-Responsive Maple Syrup Urine Disease. Thin Streeter Anomaly, Striatonigral Degeneration Autosomal Basement-Membrane Nephropathy. Thiolase deficiency, Dominant Type, Striopallidodentate Calcinosis, Stroma, RCDP. Acyl-CoA dihydroxyacetonephosphate acyltrans Descemet's Membrane, Stromal Corneal Dystrophy, Struma ferase. Third and Fourth Pharyngeal Pouch Syndrome. Third Lymphomatosa, Sturge-Kalischer-Weber Syndrome, Sturge Degree Congenital (Complete) Heart Block, Thomsen Dis US 2007/01 35335 A1 Jun. 14, 2007 ease, Thoracic-Pelvic-Phalangeal Dystrophy, Thoracic Spi ease, Type III Tyrosinemia, Type III Dentinogenesis Imper nal Canal, Thoracoabdominal Syndrome, Thoracoabdomi fecta, Typical Retinoschisis, Tyrosinase Negative Albinism nal Ectopia Cordis Syndrome. Three M Syndrome. Three-M (Type I), Tyrosinase Positive Albinism (Type II), Tyrosine Slender-Boned Nanism, Thrombasthenia of Glanzmann and mia type 1 acute form, Tyrosinemia type 1 chronic form, Naegeli, Thrombocythemia Essential, Thrombocytopenia Tyrosinosis, UCE, Ulcerative Colitis, Ulcerative Colitis Absent Radius Syndrome, Thrombocytopenia-Hemangioma Chronic Non-Specific, Ulnar-Mammary Syndrome, Ulnar Syndrome, Thrombocytopenia-Absent Radii Syndrome, Mammary Syndrome of Pallister, Ulnar Nerve Palsy, UMS, Thrombophilia Hereditary Due to AT III, Thrombotic Unclassified FODs, Unconjugated Benign Bilirubinemiav, Thrombocytopenic Purpura, Thromboulcerative Colitis, Underactivity of Parathyroid, Unilateral Ichthyosiform Thymic Dysplasia with Normal Immunoglobulins, Thymic Erythroderma with Ipsilateral Malformations Limb, Unilat Agenesis, Thymic Aplasia DiGeorge Type, Thymic Hypo eral Chondromatosis, Unilateral Defect of Pectoralis Muscle plasia Agammaglobulinemias Primary Included, Thymic and Syndactyly of the Hand, Unilateral Hemidysplasia Type, Hypoplasia DiGeorge Type, Thymus Congenital Aplasia, Unilateral Megalencephaly, Unilateral Partial Lipodystro Tic Douloureux, Tics, Tinel’s syndrome, Tolosa Hunt Syn phy, Unilateral Renal Agenesis, Unstable Colon, Unverricht drome, Tonic Spasmodic Torticollis, Tonic Pupil Syndrome, Disease, Unverricht-Lundborg Disease, Unverricht-Lund Tooth and Nail Syndrome, Torch Infection, TORCH Syn borg-Laf Disease, Unverricht Syndrome, Upper Limb— drome, Torsion Dystonia, Torticollis, Total Lipodystrophy, Cardiovascular Syndrome (Holt-Oram), Upper Motor Neu Total anomalous pulmonary venous connection, Touraine's ron Disease, Upper Airway Apnea, Upper Airway Apnea, Aphthosis, Tourette Syndrome, Tourette's disorder, Townes Urea Cycle Defects or Disorders, Urea Cycle Disorder Brocks Syndrome, Townes Syndrome, Toxic Paralytic Ane Arginase Type, Urea Cycle Disorder Arginino Succinase mia, Toxic Epidermal Necrolysis, Toxopachyosteose Dia Type, Urea Cycle Disorders Carbamyl Phosphate Synthetase physaire Tibio-Peroniere, ToXopachyosteose, Type, Urea Cycle Disorder Citrullinemia Type, Urea Cycle Toxoplasmosis Other Agents Rubella Cytomegalovirus Her Disorders N-Acrtyl Glutamate Synthetase Typ, Urea Cycle pes Simplex, Tracheoesophageal Fistula with or without Disorder OTC Type, Urethral Syndrome, Urethro-Oculo Esophageal Atresia, Tracheoesophageal Fistula, Transient Articular Syndrome, Uridine Diphosphate Glucuronosyl neonatal myasthenia gravis, Transitional Atrioventricular transferase Severe Def. Type I, Urinary Tract Defects, Septal Defect, Transposition of the great arteries, Transtele Urofacial Syndrome, Uroporphyrinogen III cosynthase, phonic Monitoring, Transthyretin Methionine-30 Amyloido Urticaria pigmentosa, Usher Syndrome, Usher Type I, Usher sis (Type I), Trapezoidocephaly-Multiple Synostosis Syn Type II, Usher Type III, Usher Type IV. Uterine Synechiae, drome, Treacher Collins Syndrome, Treacher Collins Uoporphyrinogen I-synthase, Uveitis, Uveomeningitis Syn Franceschetti Syndrome 1, Trevor Disease, Triatrial Heart, drome, V-CJD, VACTEL Association, VACTERL Associa Tricho-Dento-Osseous Syndrome, Trichodento Osseous tion, VACTERL Syndrome, Valgus Calcaneus, Valine Tran Syndrome, Trichopoliodystrophy, Trichorhinophalangeal saminase Deficiency, Valinemia, Valproic Acid, Valproate Syndrome, Trichorhinophalangeal Syndrome, Tricuspid acid exposure, Valproic acid exposure, Valproic acid, Van atresia, Trifunctional Protein Deficiency, Trigeminal Neu Buren's Disease, Van der Hoeve-Habertsma-Waardenburg ralgia, Triglyceride Storage Disease Impaired Long-Chain Gauldi Syndrome, Variable Onset Immunoglobulin Defi Fatty Acid Oxidation, Trigonitis, Trigonocephaly, Trigono ciency Dysgammaglobulinemia, Variant Creutzfeldt-Jakob cephaly, Trigonocephaly, Trigonocephaly Syndrome, Trigo Disease (V-CJD), Varicella Embryopathy, Variegate Porphy nocephaly “C” Syndrome, Trimethylaminuria, Tripha ria, Vascular Birthmarks, Vascular Dementia Binswanger's langeal Thumbs-Hypoplastic Distal Phalanges Type, Vascular Erectile Tumor, Vascular Hemophilia, Vas Onychodystrophy, Triphalangeal Thumb Syndrome, Triple cular Malformations, Vascular Malformations of the Brain, Symptom Complex of Behcet, Triple X Syndrome, Triplo X Vasculitis, Vasomotor Ataxia, Vasopressin-Resistant Diabe Syndrome, Triploid Syndrome, Triploidy, Triploidy Syn tes Insipidus, Vasopressin-Sensitive Diabetes Insipidus, drome, Trismus-Pseudocamptodactyly Syndrome, Trisomy, VATER Association, Vcf syndrome, Vcfs, Velocardiofacial Trisomy G Syndrome, Trisomy X, Trisomy 6q Partial, Syndrome, VeloCardioFacial Syndrome, Venereal Arthritis, Trisomy 6q Syndrome Partial, Trisomy 9 Mosaic, Trisomy Venous Malformations, Ventricular Fibrillation, Ventricular 9P Syndrome (Partial) Included, Trisomy 11q Partial, Tri Septal Defects, Congenital Ventricular Defects, Ventricular somy 14 Mosaic, Trisomy 14 Mosaicism Syndrome, Tri Septal Defect, Ventricular Tachycardia, Venual Malforma somy 21 Syndrome, Trisomy 22 Mosaic, Trisomy 22 Mosa tions, VEOHD, Vermis Aplasia, Vermis Cerebellar Agen icism Syndrome, TRPS, TRPS1, TRPS2, TRPS3, True esis, Vernal Keratoconjunctivitis, Verruca, Vertebral Anal Hermaphroditism, True Hermaphroditism, Truncus arterio Tracheoesophageal Esophageal Radial, Vertebral Ankylos sus, Tryptophan Malabsorption, Tryptophan Pyrrolase Defi ing Hyperostosis, Very Early Onset Huntington's Disease, ciency, TS, TTP, TTTS, Tuberous Sclerosis, Tubular Ectasia, Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Turcot Syndrome, Turner Syndrome, Turner-Kieser Syn Deficiency, Vestibular Schwannoma, Vestibular Schwan drome, Turner Phenotype with Normal Chromosomes noma Neurofibromatosis, Vestibulocerebellar, Virchow's (Karyotype), Turner-Varny Syndrome, Turricephaly, Twin Oxycephaly, Visceral Xanthogranulomatosis, Visceral Xan Twin Transfusion Syndrome, Twin-to-Twin Transfusion tho-Granulomatosis, Visceral myopathy-External Ophthal Syndrome, Type A, Type B, Type AB, Type O, Type I moplegia, Visceromegaly-Umbilical Hernia-Macroglossia Diabetes, Type I Familial Incomplete Male, Type I Familial Syndrome, Visual Amnesia, Vitamin A Deficiency, Vitamin Incomplete Male Pseudohermaphroditism, Type I Gaucher B-1 Deficiency, Vitelline Macular Dystrophy, Vitiligo, Viti Disease, Type I (PCCA Deficiency). Type I Tyrosinemia, ligo Capitis, Vitreoretinal Dystrophy, VKC, VKH Syn Type II Gaucher Disease, Type II Histiocytosis, Type II drome, VLCAD, Vogt Syndrome, Vogt Cephalosyndactyly, (PCCB Deficiency). Type II Tyrosinnemia, Type IIA Distal Vogt Koyanagi Harada Syndrome, Vogt Koyanagi Harada Arthrogryposis Multiplex Congenita, Type III Gaucher Dis Syndrome, Vogt Koyanagi Harada Syndrome, Von Bech US 2007/01 35335 A1 Jun. 14, 2007 32 terew-Strumpell Syndrome, Von Eulenburg Paramyotonia mone Deficiency, X-Linked Agammaglobulinemia, Lym Congenita, Von Frey's Syndrome, Von Gierke Disease, Von phoproliferate X-Linked Syndrome, X-linked Cardio Hippel-Lindau Syndrome, Von Mikulicz. Syndrome, Von myopathy and Neutropenia, X-Linked Centronuclear Recklinghausen Disease, Von Willebrandt Disease, VP. Vro myopathy, X-linked Copper Deficiency, X-linked Copper lik Disease (Type II), VSD. Vulgaris Type Disorder of Malabsorption, X-Linked Dominant Conradi-Hunermann Cornification, Vulgaris Type Ichthyosis, W Syndrome, Syndrome, X-Linked Dominant Inheritance Agenesis of Waardenburg Syndrome, Waardenburg-Klein Syndrome, Corpus Callosum, X-Linked Dystonia-parkinsonism, Waardenburg Syndrome Type I (WS1), Waardenburg Syn X-Linked Ichthyosis, X-Linked Infantile Agammaglobu drome Type II (WS2), Waardenburg Syndrome Type IIA linemia, X-Linked Infantile Nectrotizing Encephalopathy, X-linked Juvenile Retinoschisis, X-linked Lissencephaly, (WS2A), Waardenburg Syndrome Type IIB (WS2B), X-linked Lymphoproliferative Syndrome, X-linked Mental Waardenburg Syndrome Type III (WS3), Waardenburg Syn Retardation-Clasped Thumb Syndrome, X-Linked Mental drome Type IV (WS4), Waelsch's Syndrome, WAGR Com Retardation with Hypotonia, X-linked Mental Retardation plex, WAGR Syndrome, WAGR Syndrome, Waldenstroems and Macroorchidism, X-Linked Progressive Combined Vari Macroglobulinemia, Waldenstrom's Purpura, Walden able Immunodeficiency, X-Linked Recessive Conradi strom's Syndrome, Waldmann Disease, Walker-Warburg Hunermann Syndrome, X-Linked Recessive Severe Com Syndrome, Wandering Spleen, Warburg Syndrome, Warm bined Immunodeficiency, X-Linked Recessive Severe Antibody Hemolytic Anemia, Warm Reacting Antibody Combined Immunodeficiency, X-Linked Retinoschisis, Disease, Wartenberg Syndrome, WAS. Water on the Brain, X-linked Spondyloepiphyseal Dysplasia, Xanthine Oxidase Watson Syndrome, Watson-Alagille Syndrome, Water Deficiency (Xanthinuria Deficiency, Hereditary), Xanthi house-Friderichsen syndrome, Waxy Disease, WBS. Weaver nuria Deficiency, Hereditary (Xanthine Oxidase Defi Syndrome, Weaver-Smith Syndrome, Weber-Cockayne Dis ciency), Xanthogranulomatosis Generalized, Xanthoma ease, Wegener's Granulomatosis, Wegener's Granulomato Tuberosum, Xeroderma Pigmentosum, Xeroderma Pigmen sis, Weil Disease, Weil Syndrome, Weill-Marchesani, Weill tosum Dominant Type, Xeroderma Pigmentosum Type A Marchesani Syndrome, Weill-Reyes Syndrome, Weismann 1xPA Classical Form, Xeroderma Pigmentosum Type B II Netter-Stuhl Syndrome, Weissenbacher-Zweymuller XPB, Xeroderma Pigmentosum Type E V XPE, Xeroderma Syndrome, Wells Syndrome, Wenckebach, Werdnig-Hoff Pigmentosum Type C III XPC, Xeroderma Pigmentosum man Disease, Werdnig-Hoffmann Disease, Werdnig-Hoff Type D IV XPD, Xeroderma Pigmentosum Type F VI XPF, mann disease, Werdnig-Hoffman Disease, Werdnig-Hoff Xeroderma Pigmentosum Type G VII XPG, Xeroderma man Paralysis, Werlhof's Disease, Werner Syndrome, Pigmentosum Variant Type XP-V. Xeroderma-Talipes-and Wernicke's (C) 1 Syndrome, Wernicke's aphasia, Wernicke Enamel Defect, Xerodermic Idiocy, Xerophthalmia, Xerotic Korsakoff Syndrome, West Syndrome, Wet Beriberi, Keratitis, XLP, XO Syndrome, XP, XX Male Syndrome, Sex WHCR, Whipple's Disease, Whistling face syndrome, Reversal, XXXXX Syndrome, XXY Syndrome, XYY Syn Whistling Face-Windmill Vane Hand Syndrome. White drome, XYY Chromosome Pattern, Yellow Mutant Albi Darier Disease, Whitnall-Norman Syndrome, Whorled nism, Yellow Nail Syndrome, YKL, Young Female Arteritis, nevoid hypermelanosis, WHS, Wieacker Syndrome, Yunis-Varon Syndrome, YY Syndrome, Z-E Syndrome, Z Wieacher Syndrome, Wieacker-Wolff Syndrome, Wied and -Protease Inhibitor Deficiency, Zellweger Syndrome, mann-Beckwith Syndrome, Wiedemann-Rautenstrauch Zellweger cerebro-hepato-renal syndrome, ZES, Ziehen Syndrome, Wildervanck Syndrome, Willebrand-Juergens Oppenheim Disease (Torsion Dystonia), Zimmermann-La Disease, Willi-Prader Syndrome, Williams Syndrome, Wil band Syndrome, Zinc Deficiency Congenital, Zinsser-Cole liams Syndrome, Williams-Beuren Syndrome, Wilms Engman Syndrome, ZLS, Zollinger-Ellison Syndrome. Tumor, Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome, Wilms Tumor Aniridia Gonadoblas 0.124. In addition, other diseases and disorders which can toma Mental Retardation, Wilms Tumor-Aniridia-Geni be treated by the methods of the present invention are cancer tourinary Anomalies-Mental Retardation Syndrome, Wilms and related conditions. Types of cancers contemplated Tumor-Pseudohermaphroditism-Nephropathy, Wilms include ABL1 protooncogene, AIDS Related Cancers, Tumor and Pseudohermaphroditism, Wilms Tumor Acoustic Neuroma, Acute Lymphocytic Leukaemia, Acute Pseuodohermaphroditism-Glomerulopathy, Wilson's Dis Myeloid Leukaemia, Adenocystic carcinoma, Adrenocorti ease, Winchester Syndrome, Winchester-Grossman Syn cal Cancer, Agnogenic myeloid metaplasia, Alopecia, drome, Wiskott-Aldrich Syndrome, Wiskott-Aldrich Type Alveolar soft-part sarcoma, Anal cancer, Angiosarcoma, Immunodeficiency. Witkop Ectodermal Dysplasias, Witkop Aplastic Anaemia, Astrocytoma, Ataxia-telangiectasia, Tooth-Nail Syndrome. Wittmaack-Ekbom Syndrome, WM Basal Cell Carcinoma (Skin), Bladder Cancer, Bone Can Syndrome, WMS, WNS, Wohlfart-Disease, Wohlfart cers, Bowel cancer, Brain Stem Glioma, Brain and CNS Kugelberg-Welander Disease, Wolf Syndrome, Wolf-Hir Tumours, Breast Cancer, CNS tumours, Carcinoid Tumours, schhorn Chromosome Region (WHCR), Wolf-Hirschhorn Cervical Cancer, Childhood Brain Tumours, Childhood Syndrome, Wolff-Parkinson-White Syndrome, Wolff-Par Cancer, Childhood Leukaemia, Childhood Soft Tissue Sar kinson-White syndrome, Wolff Parkinson White Syndrome, coma, Chondrosarcoma, Choriocarcinoma, Chronic Lym Wolfram Syndrome, Wolman Disease (Lysomal Acid phocytic Leukaemia, Chronic Myeloid Leukaemia, Colorec Lypase Deficiency), Woody Guthrie's Disease, WPW Syn tal Cancers, Cutaneous T-Cell Lymphoma, drome, WPW Syndrome, Writer's Cramp, WS, WS, WS, Dermatofibrosarcoma-protuberans, Desmoplastic-Small WSS, WWS, Wyburn-Mason Syndrome, Wyburn-Mason Round-Cell-Tumour, Ductal Carcinoma, Endocrine Can Syndrome, X-Linked Addison's Disease, X-linked Adreno cers, Endometrial Cancer, Ependymoma, Esophageal Can leukodystrophy (X-ALD), X-linked Adult Onset Spinobul cer, Ewing's Sarcoma, Extra-Hepatic Bile Duct Cancer, Eye bar Muscular Atrophy, X-linked Adult Spinal Muscular Cancer, Eye: Melanoma, Retinoblastoma, Fallopian Tube Atrophy, X-Linked Agammaglobulinemia with Growth Hor cancer, Fanconi Anaemia, Fibrosarcoma, Gall Bladder Can US 2007/01 35335 A1 Jun. 14, 2007

cer, Gastric Cancer, Gastrointestinal Cancers, Gastrointesti of the antigen more efficient. It also protects against specific nal-Carcinoid-Tumour, Genitourinary Cancers, Germ Cell antigens by producing lymphocytes (a group of white blood Tumours, Gestational-Trophoblastic-Disease, Glioma, cells) that become specialized (sensitized). The sensitized Gynaecological Cancers, Haematological Malignancies, lymphocytes “recognize the foreign Substance, and they Hairy Cell Leukaemia, Head and Neck Cancer, Hepatocel destroy it. lular Cancer. Hereditary Breast Cancer. Histiocytosis, Hodgkin’s Disease, Human Papillomavirus, Hydatidiform 0127. Immunity is, in part, a product of lymphoid tissue mole, Hypercalcemia, Hypopharynx Cancer, IntraCcular in the body that includes the thymus, lymph nodes, tonsils, Melanoma, Islet cell cancer, Kaposi's sarcoma, Kidney parts of the spleen and gastrointestinal tract, and bone Cancer, Langerhans-Cell-Histiocytosis, Laryngeal Cancer, marrow. Lymphocytes (the specialized white blood cells that Leiomyosarcoma, Leukaemia, Li-Fraumeni Syndrome, Lip provide acquired immunity) are produced or mature in Cancer, Liposarcoma, Liver Cancer, Lung Cancer, Lymphe various lymphoid tissues. Lymphocytes are divided into two dema, Lymphoma, Hodgkin’s Lymphoma, Non-Hodgkin’s groups. T lymphocytes become the sensitized lymphocytes Lymphoma, Male Breast Cancer, Malignant-Rhabdoid-Tu that directly attack (cellular immunity). B lymphocytes mour-of-Kidney, Medulloblastoma, Melanoma, Merkel Cell produce antibodies (humoral immunity) that attach to the Cancer, Mesothelioma, Metastatic Cancer, Mouth Cancer, antigen and make phagocytes and body chemicals such as Multiple Endocrine Neoplasia, Mycosis Fungoides, Myelo complement proteins much more efficient in the destruction dysplastic Syndromes, Myeloma, Myeloproliferative Disor of the antigen. ders, Nasal Cancer, Nasopharyngeal Cancer, Nephroblas 0.128 Immune system disorders occur when the immune toma, Neuroblastoma, Neurofibromatosis, Nijmegen response is inappropriate, excessive, or lacking. Immuno Breakage Syndrome. Non-Melanoma Skin Cancer, Non deficiency disorders occur when the immune system fails to Small-Cell-Lung-Cancer-(NSCLC), Ocular Cancers, fight tumors or invading Substances. This causes persistent Oesophageal Cancer, Oral cavity Cancer, Oropharynx Can or recurrent infections, severe infections by organisms that cer, Osteosarcoma, Ovarian Cancer, Pancreas Cancer, Para are normally mild, incomplete recovery from illness or poor nasal Cancer, Parathyroid Cancer, Parotid Gland Cancer, response to treatment, and an increased incidence of cancer Penile Cancer, Peripheral-Neuroectodermal-Tumours, Pitu and other tumors. Opportunistic infections are widespread itary Cancer, Polycythemia vera, Prostate Cancer, Rare infections by microorganisms that are usually controllable. cancers-and-associated-disorders, Renal Cell Carcinoma, Retinoblastoma, Rhabdomyosarcoma, Rothmund-Thomson 0129. This deficiency may affect any part of the immune Syndrome, Salivary Gland Cancer, Sarcoma, Schwannoma, system. Most commonly, it involves decreased functioning Sezary syndrome, Skin Cancer, Small Cell Lung Cancer of T or B lymphocytes (or both), or deficient antibody (SCLC), Small Intestine Cancer, Soft Tissue Sarcoma, Spi production. The causes include congenital/inherited defects nal Cord Tumours, Squamous-Cell-Carcinoma-(skin), and acquired immunodeficiency caused by a disease that Stomach Cancer, Synovial sarcoma, Testicular Cancer, Thy affects the immune system. mus Cancer, Thyroid Cancer, Transitional-Cell-Cancer (bladder), Transitional-Cell-Cancer-(renal-pelvis-/- ureter), 0.130. Examples of congenital immunodeficiency disor ders of antibody production (B lymphocyte abnormalities) Trophoblastic Cancer, Urethral Cancer, Urinary System include hypogammaglobulinemia (lack of one or more spe Cancer, Uroplakins, Uterine sarcoma, Uterus Cancer, Vagi cific antibodies), which usually causes repeated mild respi nal Cancer, Vulva Cancer, Waldenstrom's-Macroglobuline ratory infections, and agammaglobulinemia (lack of all or mia and Wilms Tumour. most antibody production), which results in frequent severe 0125. As used herein “inflammatory diseases and disor infections and is often fatal. Congenital disorders affecting ders' encompass those disease and disorders which result in the T lymphocytes may cause increased Susceptibility to a response of redness, Swelling, pain, and a feeling of heat fungi, resulting in repeated Candida (yeast) infections. in certain areas that is meant to protect tissues affected by Inherited combined immunodeficiency affects both T lym injury or disease. Inflammatory diseases which can be phocytes and B lymphocytes. It is often fatal within the first treated using the methods of the present invention, include, year of life because there is no resistance to disease or without being limited to, acne, angina, arthritis, aspiration infection. pneumonia, disease, empyema, gastroenteritis, inflamma tion, intestinal flu, NEC, necrotizing enterocolitis, pelvic 0131 People are said to be “immunosuppressed when inflammatory disease, pharyngitis, PID, pleurisy, raw throat, they experience immunodeficiency that is caused by medi redness, rubor, Sore throat, stomach flu and urinary tract cations such as corticosteroids or other immunosuppressant infections. medications. This is a desired part of treatment for disorders 0126 The treatment of diseases and disorders associated Such as autoimmune disorders. It is used after organ trans with immune function are also contemplated by the methods plantation to prevent transplant rejections. of the present invention. Immunosuppression is a disorder or 0.132. Immunosuppression is also a common side effect condition where the immune response is reduced or absent. of chemotherapy to treat many types of cancer because the The immune system protects the body from potentially chemotherapy often reduces the number of white blood cells harmful Substances (antigens) such as microorganisms, tox available to fight infection. ins, cancer cells, and blood or tissues from another person. The immune response consists of general actions such as 0.133 Acquired immunodeficiency may be a complica phagocytosis, where white blood cells engulf and destroy tion of diseases such as HIV infection and AIDS (acquired “foreign' material. It protects against specific antigens by immunodeficiency syndrome). Malnutrition, particularly producing antibodies (immunoglobulins), which are mol with lack of protein, can cause acquired immunodeficiency. ecules that attach to a specific antigen and make destruction Many cancers can cause immunodeficiency. US 2007/01 35335 A1 Jun. 14, 2007 34

0134) Those who have had a splenectomy, or removal of Neurological Disorders and Stroke) Hallervorden-Spatz the spleen, face a higher risk of infection from certain Disease (National Institute of Neurological Disorders and encapsulated bacteria, Such as but not limited to Streptococ Stroke) Krabbe Disease (National Institute of Neurological cus pneumoniae, that the spleen would normally help fight. Disorders and Stroke) Leigh's Disease (National Institute of Neurological Disorders and Stroke) Leukodystrophy 0135) Increasing age also reduces the effectiveness of the (National Institute of Neurological Disorders and Stroke) immune system. Immune system tissues (particularly lym Monomelic Amyotrophy (National Institute of Neurological phoid tissue Such as the thymus) shrink with aging. There is Disorders and Stroke) Olivopontocerebellar Atrophy also reduced lymphocyte number and activity with increas (National Institute of Neurological Disorders and Stroke) ing age. Opsoclonus Myoclonus (National Institute of Neurological 0136. The present invention, therefore, is directed in part, Disorders and Stroke) Paraneoplastic Syndromes (National to the treatment of immunosuppressed individuals who are Institute of Neurological Disorders and Stroke) Pelizaeus Suffering from, for example, without limitation, from Merzbacher Disease (National Institute of Neurological Dis Ataxia-telangiectasia, DiGeorge syndrome, Chediak-Hi orders and Stroke) Progressive Multifocal Leukoencephal gashi syndrome, Job syndrome, Leukocyte adhesion defects, opathy (National Institute of Neurological Disorders and Panhypogammaglobulinemia, Bruton disease, Congenital Stroke) Progressive Supranuclear Palsy (National Institute agammaglobulinemia, Selective deficiency of IgA, Com of Neurological Disorders and Stroke), Spanish Ramsay bined immunodeficiency disease, Wiscott-Aldrich syn Hunt Syndrome Type II (National Institute of Neurological drome, and Complement deficiencies. Disorders and Stroke) Shy-Drager Syndrome, Alzheimer's disease, amyotrophic lateral Sclerosis, aphasia, attention 0137 As used herein, the term “infertility” refers to the deficit disorder with hyperactivity, back pain, Bell's palsy, inability to conceive an offspring. Disease and disorders brain cancer, brain diseases, carpal tunnel syndrome, cere associated with ininfertility which can be treated using the bral palsy, Charcot-Marie-tooth disease, Creutzfeldt-Jakob methods of the present invention include, without being disease, degenerative nerve diseases, dementia, dizziness limited to, Varicocoele, Galactorrhoea-Hyperprolacti and vertigo, dystonia, encephalitis, epilepsy, Guillain-Barre naemia, Cryptorchism (maldescended or ectopic testis), syndrome, head and brain injuries, headache and migraine, Gonadal dysgenesis, Young's syndrome, Klinefelter's Syn hydrocephalus, memory, meningitis, movement disorders, drome, Germinal cell aplasia, Haemochromatosis, Kallmann multiple Sclerosis, myasthenia gravis, neural tube defects, syndrome, Myotonic dystrophy, 5-Alpha reductase defi neurofibromatosis, neurologic diseases (general), pain, ciency, Cystic fibrosis, Kartagener's syndrome, Incomplete paralysis, Parkinson's disease, peripheral nerve disorders, androgen insensitivity, Kennedy's disease, Galactorrhoea phenylketonuria, pituitary disorders, reflex sympathetic dys Hyperprolactinaemia, Hypopituitarism, Epididymo-orchitis, trophy, restless legs, Reye syndrome, seizures, shingles Pituitary tumour, Amenorrhoea (Specific type of Female (herpes Zoster), sleep disorders, spina bifida, spinal cord ininfertility), Haemosiderosis, Hypokalaemic distal renal diseases and injuries, spinal cord injuries, stroke, thoracic tubular acidosis, Idiopathic premature ovarian failure, Mal outlet syndrome, tourette syndrome, tremor, tuberous scle absorption syndrome, Dyspareunia, Galactorrhoea-Hyper rosis, and West Nile virus. prolactinaemia, FSH receptor deficiency, Gonadal dysgen esis (female), Mullerian dysgenesis, Trisomy X, Turner's 0.139. An "effective amount’ means an amount necessary syndrome, Kallmann syndrome, Myotonic dystrophy, C21 at least partly to attain the desired effect or to delay the onset hydroxylase deficiency, Galactosaemia, Testicular feminiza or inhibit progression or halt altogether, the onset or pro tion syndrome, Malabsorption syndrome, Conn's syndrome, gression of a particular condition of the individual to be Cushing's syndrome, Diabetes mellitus type 2, Galactor treated, the taxonomic group of the individual to be treated, rhoea-Hyperprolactinaemia, Hyperthyroidism, Hypopitu the degree of protection desired, the formulation of the itarism, Hypothyroidism, Sheehan’s syndrome, Autoim composition, the assessment of the medical situation, and mune adrenalitis, Systemic lupus erythematosus, Adrenal other relevant factors. It is expected that the amount will fall cortex tumours, Pituitary tumour, Prolactin secreting pitu in a relatively broad range that can be determined through itary tumour, Benign neoplastic conditions, Cushing's dis routine trials. ease, Malignant neoplastic conditions, Ovarian cancer, Poly 0140. In accordance with these methods, agents capable cystic ovary syndrome and Pelvic inflammatory disease. of modulating Beacon-CLK interaction may be co-admin istered with one or more other compounds or other mol 0138 Chordoma Craniopharyngioma Medulloblastoma ecules. By “co-administered” is meant simultaneous admin Meningioma Pineal Tumors Pituitary Adenoma Primitive istration in the same formulation or in two different Neuroectodermal Tumors Schwannoma Vascular Tumors, astrocytoma, glioblastomas, metatatic brain tumors, amyo formulations via the same or different routes or sequential trophic lateral Sclerosis (ALS), progressive muscular atro administration by the same or different routes. By “sequen phy, and postpolio syndrome, Adrenoleukodystrophy tial administration is meant a time difference of from (National Institute of Neurological Disorders and Stroke) seconds, minutes, hours or days between the administration Alexander Disease (National Institute of Neurological Dis of the two types of molecules. These molecules may be orders and Stroke) Alpers’ Disease (National Institute of administered in any order. Neurological Disorders and Stroke) Canavan Disease 0.141. In yet another aspect, the present invention relates (National Institute of Neurological Disorders and Stroke) to the use of an agent capable of modulating interaction Dementia with Lewy Bodies (National Institute of Neuro between Beacon and CLK in the manufacture of a medica logical Disorders and Stroke) Friedreich's Ataxia (National ment for the treatment of a condition characterized by a Institute of Neurological Disorders and Stroke) Also avail healthy or unhealthy state, including the presence or absence able in: Spanish Friedreich's Ataxia (National Institute of of a disorder associated with myopathy, obesity, anorexia, US 2007/01 35335 A1 Jun. 14, 2007

weight maintenance, diabetes, disorders associated with agents, for example, parabens, chlorobutanol, phenol, Sorbic mitochondrial dysfunction, genetic disorders, cancer, heart acid, thirmerosal and the like. In many cases, it will be disease, inflammation, disorders associated with the immune preferable to include isotonic agents, for example, Sugars or system, infertility, disease associated with the brain and/or sodium chloride. Prolonged absorption of the injectable metabolic energy levels. compositions can be brought about by the use in the com 0142. In a related aspect of the present invention, the positions of agents delaying absorption, for example, alu mammal undergoing treatment may be a human oran animal minum monostearate and gelatin. in need of therapeutic or prophylactic treatment. 0.150 Sterile injectable solutions are prepared by incor 0143. The terms “treating and “treatment as used porating the active components in the required amount in the herein refer to a reduction in the severity and/or frequency appropriate solvent with optionally other ingredients, as of symptoms associated with inter alia a a healthy or required, followed by sterilization by, for example, filter unhealthy State, including the presence or absence of a sterilization, irradiation or other convenient means. In the disorder associated with myopathy, obesity, anorexia, case of sterile powders for the preparation of sterile inject weight maintenance, diabetes, disorders associated with able solutions, the preferred methods of preparation are mitochondrial dysfunction, genetic disorders, cancer, heart vacuum drying and the freeze-drying technique which yield disease, inflammation, disorders associated with the immune a powder of the active ingredient plus any additional desired system, infertility, disease associated with the brain and/or ingredient from previously sterile-filtered solution thereof. metabolic energy levels and/or the underlying cause, pre 0151. When an antagonist or agonist itself are suitably vention of the occurrence of symptoms of disease and/or the protected they may be orally administered, for example, underlying cause and improvement or remediation of dam with an inert diluent or with an assimilable edible carrier, or age. it may be enclosed in hard or Soft shell gelatin capsule, or it 0144 "Treating a subject may involve prevention of the may be compressed into tablets, or it may be incorporated disorder or disease condition or adverse physiological event directly with the food of the diet. For oral therapeutic in a susceptible individual as well as treatment of a clinically administration, the active compound may be incorporated symptomatic individual by inhibiting a disease or disorder. with excipients and used in the form of ingestible tablets, Generally, Such conditions involve, weakness (which may buccal tablets, troches, capsules, elixirs, Suspensions, Syr be intermittent), neuropathic pain, absent reflexes, gas ups, wafers, and the like. Such compositions and prepara trointestinal problem (gastroesophogeal reflux, delayed gas tions should contain at least 1% by weight of active com tric emptying, constipation, pseudo-obstruction), fainting, pound. The percentage of the compositions and preparations absent or excessive Sweating resulting in temperature regu may, of course, be varied and may conveniently be between lation problems weakness, hypotonia, cramping, muscle about 5 to about 80% of the weight of the unit. The amount pain, proximal renal tubular wasting resulting in loss of of active compound in Such therapeutically useful compo protein, magnesium, phosphorous, calcium and other elec sitions is such that a suitable dosage will be obtained. trolytes, cardiac conduction defects (heart blocks) and car Preferred compositions or preparations according to the diomyopathy, hypoglycemia (low blood Sugar) and liver present invention are prepared so that an oral dosage unit failure, visual loss and blindness, hearing loss and deafness, form contains between about 0.1 g and 2000 mg of active diabetes and exocrine pancreatic failure (inability to make compound. digestive enzymes), mitochondrial dysfunction, including failure to gain weight, short statue, fatigue and respiratory 0152 The tablets, troches, pills, capsules and the like problems. may also contain the following: A binder Such as gum tragacanth, acacia, corn starch or gelatin; excipients such as 0145 Accordingly, the present invention contemplates in dicalcium phosphate; a disintegrating agent such as corn one embodiment a composition comprising a modulator of starch, potato starch, alginic acid and the like; a lubricant Beacon-CLK interaction and one or more pharmaceutically Such as magnesium Stearate; and a Sweetening agent such a acceptable carriers and/or diluents. Sucrose, lactose or saccharin may be added or a flavouring 0146 For brevity, all such components of such a com agent such as peppermint, oil of wintergreen, or cherry position are referred to as “active components’. flavouring. When the dosage unit form is a capsule, it may contain, in addition to materials of the above type, a liquid 0147 The compositions of active components in a form carrier. Various other materials may be present as coatings or Suitable for injectable use include sterile aqueous solutions to otherwise modify the physical form of the dosage unit. (where water soluble) and sterile powders for the extempo For instance, tablets, pills, or capsules may be coated with raneous preparation of sterile injectable solutions. In all shellac, Sugar or both. A syrup or elixir may contain the cases, the form must be sterile and must be fluid to the extent active compound, Sucrose as a Sweetening agent, methyl and that easy syringability exists. It must be stable under the propylparabens as preservatives, a dye and flavouring Such conditions of manufacture and storage and must be pre as cherry or orange flavour. Of course, any material used in served against the contaminating action of microorganisms preparing any dosage unit form should be pharmaceutically Such as bacteria and fungi. pure and Substantially non-toxic in the amounts employed. 0148. The carrier can be a solvent or other medium In addition, the active compound may be incorporated into containing, for example, water, ethanol, polyol (for example, Sustained-release preparations and formulations. glycerol, propylene glycol and liquid polyethylene glycol, 0.153 Pharmaceutically acceptable carriers and/or dilu and the like), suitable mixtures thereof, and vegetable oils. ents include any and all solvents, dispersion media, coatings, 014.9 The preventions of the action of microorganisms antibacterial and antifungal agents, isotonic and absorption can be brought about by various antibacterial and antifungal delaying agents and the like. The use of Such media and US 2007/01 35335 A1 Jun. 14, 2007 36 agents for pharmaceutical active Substances is well known in EXAMPLE 1. the art. Except insofar as any conventional media or agent is incompatible with the active ingredient, use thereof in the Yeast Two-Hybrid Screen therapeutic compositions is contemplated. Supplementary 0160 Yeast two-hybrid screening with the ProQuestTM active ingredients can also be incorporated into the compo two-hybrid system (Life Technologies) was performed as sitions. described in Walder et al., Diabetes 51: 1859-1866, 2002. The entire coding sequence of Beacon (Genbank Accession 0154 It is especially advantageous to formulate # AF318186) was cloned into the yeast vector ploBLeu, in parenteral compositions in dosage unit form for ease of fusion with the reading frame of GAL4 DNA binding administration and uniformity of dosage. Dosage unit form domain. MaV203 transformed with ploBLeu-Beacon were as used herein refers to physically discrete units Suited as grown on plates containing 20 mM 3-Amino-1,2,4-Triazole unitary dosages for the mammalian Subjects to be treated; (3-AT) in order to suppress basal expression of HIS3. each unit containing a predetermined quantity of active MaV203 cells harbouring ploBLeu-beacon were trans material calculated to produce the desired therapeutic effect formed with 18 lug of plasmid DNA harvested from a in association with the required pharmaceutical carrier. The ProQuestTM human brain cDNA library and 1.4x10° trans specification for the novel dosage unit forms of the invention formants were screened for Beacon interacting clones. are dictated by and directly dependent on (a) the unique Clones deemed HIS positive in the primary screen were characteristics of the active material and the particular further screened for induction of two other test reporter therapeutic effect to be achieved, and (b) the limitations genes, URA3 and lacz. inherent in the art of compounding Such an active material for the treatment of disease in living Subjects having a EXAMPLE 2 diseased condition in which bodily health is impaired as herein disclosed in detail. Expression and Purification of Recombinant GST and Beacon Proteins 0155 The principal active component may be com 0.161 The cDNA encoding Beacon was subcloned into pounded for convenient and effective administration in the pGEX2T expression vector (Amersham Pharmacia Bio Sufficient amounts with a suitable pharmaceutically accept tech). Both GST and GST-beacon fusion protein were able carrier in dosage unit form. A unit dosage form can, for expressed in the BL21 strain of E. coli. Cultures were grown example, contain the principal active component in amounts at 37° C. and induced at 30° C. with 0.5 mM IPTG for three ranging from 0.5 Lig to about 2000 mg. Expressed in hours. Bacteria were harvested, lysed by sonication and the proportions, the active compound is generally present in GST and GST-Beacon fusion protein were affinity purified from about 0.5 g to about 2000 mg/ml of carrier. In the case on Glutathione Sepharose beads (Amersham Biosciences) of compositions containing Supplementary active ingredi using standard protocols. Protease inhibitor cocktail (Roche ents, the dosages are determined by reference to the usual Molecular Biology) was added to the buffers during isola dose and manner of administration of the said ingredients. tion. Over 25 mg of GST and GST-beacon were recovered per litre of culture. The GST tag was cleaved off using 0156. In general terms, effective amounts of AGT-insert bovine plasma thrombin (Sigma) and further purified to AGT number here will range from 0.01 ng/kg/body weight homogeneity by removal of contaminating GST using Glu to above 10,000 mg/kg/body weight. Alternative amounts tathione Sepharose beads. Standard methods were used for range from 0.1 ng/kg/body weight is above 1000 mg/kg/ SDS-PAGE and staining of gels by Coomassie blue to body weight. AGT-insert AGT number here may be admin monitor the quantity and quality of proteins throughout the istered per minute, hour, day, week, month or year depend purification procedures. ing on the condition being treated. The route of administration may vary and includes intravenous, intrap eritoneal, Sub-cutaneous, intramuscular, intranasal, via Sup EXAMPLE 3 pository, via infusion, via drip, orally or via other convenient Expression and Purification of Recombinant Human CaS. CLK1, 2 and 4 Proteins 0157. The present invention further extends to a CLK 0162 Human liver cell line, HepG2 was used as a source ligand which is independent of Beacon or Beacon-CLK for isolation of CLK clones. Human CLK1, 2 and 4 (Gen interaction. The CLK ligand is useful for a range of appli Bank accession #L29219, L29218, AF294429) were ampli cations such as acting as an antagonist for CLK interaction fied using the gene specific primers, forward 5'-GAT TCC with other ligands. The CLK ligand of this aspect of the COT GATTGC GTT ACA-3 SEQID NO:6 and reverse present invention, for example, is useful in the treatment of 5'-GAAAAA GAT GTT CAT TAC CTTAGC-3'SEQ ID diabetes and/or other conditions associated with CLK. This NO:7 for CLK1; forward 5'-ACG GAC TTC CTG TOG aspect of the present invention further contemplates nucleic GAC AAG C-3 SEQID NO:8 and reverse 5'-CTG GAC acid molecules, encoding the CLK ligand as well as com TOG ACA CCC ACT GCT AT-3 SEQ ID NO:9 for positions comprising the CLK ligand Such as pharmaceutical CLK2: forward 5'-AGG AGG GAA GAC GGC AGT TTG compositions. –3'SEQ ID NO:10 and reverse 5'-TAG TAA GAC CAC 0158. The present invention is further described by the TGATTC CCATTTC-3 SEQID NO:11 for CLK4. Each following non-limiting Examples. insert was sequence verified and Subcloned into the pGEX4T-1 expression vector (Amersham Biosciences). The 0159. The present invention is further described by the GST CLK proteins were expressed and purified as described following non-limiting Examples. above however the bacterial cultures were induced with US 2007/01 35335 A1 Jun. 14, 2007 37

IPTG at 25° C. for CLK1 and at 37° C. for CLK2 and CLK4. 0166 Sequencing revealed the two weakly interacting The GST-CLKs expressed in low amounts and on purifica clones to be 100% homologous to human heat shock protein tion yielded 30, 65 and 700 ug of CLK1, 2 and 4 fusion 2 (HSPB2, Genbank Accession # NM 001541). The nucle proteins per litre culture respectively. Despite low yields, it otide sequence of clone 31, which interacted Strongly with was possible to concentrate and equilibrate the proteins into beacon was revealed to be a partial clone and 100% homolo Biacore compatible 10 mM Hepes pH 7.4/0.15 M. NaCl gous to the sequence of human cdc2/cdc28 like kinase 4 buffer (HBS-N buffer from Biacore AB) using Centricon (CLK4; Genbank Accession #AF294429). The cDNA cor filters (Millipore) with 5 kDa molecular weight cut off. responding to the 249 bp beginning from the start codon of CLK4 was absent in clone 31 indicating that the fusion EXAMPLE 4 protein expressed was incomplete, lacking the first 83 amino acids of CLK4. Kinase Assay 0167 Human CLK4 shares 68, 67 and 63% sequence 0163 Recombinant proteins were incubated in a kinase identity at amino acid level with its three closely related reaction buffer constituting 20 mM Tris-Cl pH 7.4/19 mM family members CLK1, 2 and 3 respectively. CLK1, 2 and MgC1/1 mM EGTA/0.018 uM ATP. Ten Ciofly-P-ATP 4 were shown to be expressed in the brain and several other (New England Nuclear) was incorporated into 30 ul of tissues (Nayler et al., Biochem J. 326(3): 693-700, 1997: reaction medium and incubated at room temperature for 20 Schultz et al., Genomics 71: 368-370, 2001). CLK1 and 2 min. Reactions were stopped by the addition of 15 ul of 5x have the ability to phosphorylate and potentiate the activity Laemmli sample buffer. After performing SDS-PAGE, gels of PTP1B (Moeslein et al., J. Biol. Chem. 274: 26697 were exposed to a Phosphor Imager plate for 30 min and 26704, 1999). PTP1B is one of the most prominent non scanned using a Phosphor Imager (Molecular Dynamics). transmembrane, cytosolic phosphatases implicated in the regulation of a variety of receptor mediated intracellular EXAMPLE 5 signalling pathways including those of insulin and leptin (Byon et al., Mol. Cell. Biochem 182: 101-108, 1998: Surface Plasmon Resonance (SPR) Analyses Zabolotny et al., Dev. Cell 2: 489-495, 2002). To further confirm the interaction between Beacon and CLK4 and to 0164 SPR analyses were performed with minor varia examine whether Beacon similarly interacts with CLK1 and tions as described in Walder et al., 2002, supra using a CLK2, SPR, a highly sensitive in vitro technique for moni Biacore J instrument (Biacore AB). Beacon was attached to toring protein/protein interactions in real time, was a CM5 sensor chip at pH 5.5 by an amine coupling reaction. employed. HBS-EP (10 mM Hepes pH 7.4/0.15 M NaC1/3 mM EDTA/ 0.005% Polysorbate 20) was used as running buffer. Flow 0168 Beacon, GST, GST CLK1, GST-CLK2 and GST cells 1 and 2 in the sensor chip were treated in the same CLK4 were expressed and purified as recombinant proteins. manner except that ligand was absent in flow cell 2 which The GST and Beacon produced were pure and homoge served as a reference cell. Binding experiments were per neous. Conversely, the CLKs expressed poorly, but were formed in dual channel mode and the reference subtracted amenable to purification and tended to break down giving sensorgrams represented true binding patterns between rise to protein fragments of varying length. All three CLKS ligand and analyte. Test samples diluted to 130 ul in running exhibited kinase activity (FIG. 2) indicating the proteins to buffer were injected over a fixed duration of 4 min. For heat be authentic and functional. Beacon was not phosphorylated treatments, proteins were initially diluted to 20 Jul in running by any of the CLKs and, therefore, is unlikely to be one of buffer, incubated at 65 or 70° C. for 10 min, centrifuged for the protein substrates for CLKs. 30 sec, reconstituted to a final volume of 130 ul with running 0169. In SPR analyses, each GST CLK fusion protein buffer and injected as usual. Between injections, chips were showed concentration dependent binding to Beacon (FIGS. regenerated using 40 ul of 10 mM NaOH. Sensorgrams were 3A, B, C). GST alone did not show any binding to Beacon rejected if there was any problem obtaining steady baseline which indicates that the GST component of the GST-CLKs prior to injections or if the chip regeneration was not was not responsible for the observed binding phenomenon. satisfactory or if the chip showed any signs of deterioration. The activity of CLKs responsible for binding to Beacon appeared to be unstable to treatments at higher temperatures. EXAMPLE 6 The binding of Beacon to CLK1 and CLK2 decreased by >90% when treated at 65° C. for 10 min (FIGS. 3D, E). The Identification of Beacon Ligands binding activity of CLK4 decreased by 60% when treated at 0165. Using Beacon as bait, over one million clones were 70° C. (FIG.3F). Further, Beacon or other unrelated proteins screened from a human brain cDNA library and 32 HIS Such as bovine serum albumin, maltose binding protein or clones were identified. Three of these (clones 12, 16 and 31) insulin did not show binding to Beacon Suggesting the also induced expression of the other two reporter genes Beacon/CLK interactions to be highly specific. URA3 and lacz. To determine the authenticity of the 0170 Those skilled in the art will appreciate that the observed interactions, plasmids from the interacting clones invention described herein is susceptible to variations and were isolated, reintroduced into MaV203 cells containing modifications other than those specifically described. It is to the bait ploBLeu-beacon and assayed for the expression of be understood that the invention includes all such variations all three test reporter genes. The results were reproducible and modifications. The invention also includes all of the and confirmed positive (FIG. 1). When compared with the steps, features, compositions and compounds referred to or Supplied positive controls, interactions between Beacon and indicated in this specification, individually or collectively, clones 12 and 16 were assessed to be weak and clone 31 to and any and all combinations of any two or more of said be a strong interaction (FIG. 1). steps or features. US 2007/01 35335 A1 Jun. 14, 2007 38

SEQUENCE LISTING

<160> NUMBER OF SEQ ID NOS : 11 <210> SEQ ID NO 1 <211& LENGTH: 11 &212> TYPE PRT <213> ORGANISM: Homo sapien <400 SEQUENCE: 1 Glu His Lieu Ala Met Met Glu Arg Ile Leu Gly 1 5 10

<210> SEQ ID NO 2 <211& LENGTH 342 &212> TYPE DNA <213> ORGANISM: Psammomys obesus &220s FEATURE <221 NAME/KEY: CDS <222> LOCATION: (29).. (247) <400 SEQUENCE: 2 gttcCaggag attacagotc cagocaca atg att gag gtg gtt togc aac gac 52 Met Ile Glu Val Val Cys Asn Asp 1 cgt. cita gga aag aaa gtc. c.gc gtt aag to c aac acc gat gac acc atc 100 Arg Leu Gly Lys Lys Val Arg Val Lys Cys Asn Thr Asp Asp Thr Ile 10 15 20 ggg gac titg aag aaa citg ata gog gcc Cala act ggC act cgt. tgg aat 148 Gly Asp Leu Lys Lys Lieu. Ile Ala Ala Glin Thr Gly Thr Arg Trp Asn 25 30 35 40 aag atc gtt citt aaa aag togg tac acg att titt aag gac cat gta tot 196 Lys Ile Val Lieu Lys Lys Trp Tyr Thr Ile Phe Lys Asp His Wall Ser 45 50 55 citg gga gat tat gaa atc. cac gat ggg atg aac citg gag citt tat tac 244 Teu Gly Asp Tyr Glu Ile His Asp Gly Met Asn Teu Glu Telu Tyr Tyr 60 65 70

Cag tagaggggaa titccitccacc ttgcc.caacc ttgcttitcct citcc.catggc 297 Glin toatttaaca citgttgtaga tigctdattitt tttgttaagt gtact 342

<210> SEQ ID NO 3 &2 11s LENGTH 73 &212> TYPE PRT <213> ORGANISM: Psammomys obesus <400 SEQUENCE: 3

Met Ile Glu Val Val Cys Asn Asp Arg Leu Gly Lys Wall Arg Wall 1 5 10 15

Lys Cys Asn. Thir Asp Asp Thr Ile Gly Asp Lieu Lys Telu Ile Ala 2O 25 30

Ala Gln Thr Gly Thr Arg Trp Asn Lys Ile Wall Teu Lys Trp Tyr 35 40 45

Thr Ile Phe Lys Asp His Val Ser Telu Gly Asp Tyr Glu Ile His Asp 50 55 60

Gly Met Asn Leu Glu Leu Tyr Tyr Glin 65 70

<210> SEQ ID NO 4

US 2007/01 35335 A1 Jun. 14, 2007 40

-continued caggccacct gaccc.ggctg tgaatggatg a gaggggtgg ggacggaagt cagagtCagg 20 40 attic cittaac acctitt.ccitt cagatgaaat coacgatggg atgaactgga gotta atttic 2100 aatagatgag aatcct catc titcctg.cccc gctttccitct cocatccitca toccccacac 216 O tgggatagat gcttgtttgt 218O

<210 SEQ ID NO 5 &2 11s LENGTH 33 &212> TYPE PRT <213> ORGANISM: human &220s FEATURE <221 NAME/KEY: MISC FEATURE <222> LOCATION: (15) . . (15) &223> OTHER INFORMATION Xaa = Asn

<400 SEQUENCE: 5 Met Ile Glu Val Val Cys Asn Asp Arg Lieu Gly Lys Lys Val Xaa Val 1 5 10 15 Lys Cys Asn. Thir Asp Asp Thir Ile Gly Asp Leu Lys Lys Lieu. Ile Ala 25 30

Ala

<210> SEQ ID NO 6 <211& LENGTH 21 &212> TYPE DNA <213> ORGANISM: artificial sequence &220s FEATURE <223> OTHER INFORMATION: forward primer 5' (CLK1) <400 SEQUENCE: 6 gatticcc.gtg attgcgttac a 21

<210 SEQ ID NO 7 <211& LENGTH 24 &212> TYPE DNA <213> ORGANISM: artificial sequence &220s FEATURE <223> OTHER INFORMATION: reverse primer 5' (CLK1) <400 SEQUENCE: 7 gaaaaagatg titcattacct tagc 24

<210 SEQ ID NO 8 <211& LENGTH 22 &212> TYPE DNA <213> ORGANISM: artificial sequence &220s FEATURE <223> OTHER INFORMATION: forward primer 5' (CLK2) <400 SEQUENCE: 8 acgg actitcc totgggacaa go 22

<210 SEQ ID NO 9 &2 11s LENGTH 23 &212> TYPE DNA <213> ORGANISM: artificial sequence &220s FEATURE <223> OTHER INFORMATION: reverse primer 5' (CLK2) <400 SEQUENCE: 9 citgg actoga cacccactgc tat 23 US 2007/01 35335 A1 Jun. 14, 2007

-continued

<210> SEQ ID NO 10 <211& LENGTH 21 &212> TYPE DNA <213> ORGANISM: artificial sequence &220s FEATURE <223> OTHER INFORMATION: forward primer 5' (CLK4) <400 SEQUENCE: 10 aggagggaag acggCagttt g 21

<210> SEQ ID NO 11 &2 11s LENGTH 25 &212> TYPE DNA <213> ORGANISM: artificial sequence &220s FEATURE <223> OTHER INFORMATION: reverse primer 5' (CLK4) <400 SEQUENCE: 11 tagtaag acc actgattccc attitc 25

1. An isolated ligand of mammalian or avian Beacon or a disease, inflammation, disorders associated with the immune homolog or derivative of said Beacon. system, infertility, disease associated with the brain and/or 2. The isolated ligand of claim 1 wherein the Beacon metabolic energy levels, said method comprising adminis comprises an amino acid sequence as set forth in SEQ ID tering to said mammal an effective amount of an agent for NO:3 or 5 or an amino acid sequence having at least about a time and under conditions Sufficient to modulate the 50% similarity to SEQ ID NO:3 or 5. interaction between Beacon and a CLK or sufficient to 3. The isolated ligand of claim 1 wherein the Beacon is antagonize or agnoize Beacon-CLK interaction. encloded by a nucleotide sequence Substantially as set forth 11. The method of claim 10 or 11 wherein the mammal is in SEQ ID NO:2 or 4 or a nucletoide having at least about a human. 50% identity to SEQID NO:2 or 4 or a nucleotide sequence 12. The method of any one of claims 9 to 11, the treatment capable of hybridizing to SEQ ID NO:2 or 4 or their of any disease selected from the group consisting of Alzhe complementary forms after optimal alignment. imer's, Parkinson's, diabetes, autism, and the aging process, 4. The isolated ligand of claim 1 or 2 or 3 wherein the LIC (Lethal Infantile Cardiomyopathy), Beta-oxidation Beacon is human Beacon. Defects, COX Deficiency, Mitochondrial Cytopathy, Alpers 5. The isolated ligand of claim 1 wherein the ligand is a Disease, Barth syndrome, Carnitine-Acyl-Carnitine Defi CLK comprising the amino acid motif EHLAMMERILG. ciency, Carnitine Deficiency, Co-Enzyme Q10 Deficiency, 6. The isolated ligand of claim 1 or 5 wherein the ligand Complex I Deficiency, Complex II Deficiency, Complex III is CLK 1. Deficiency, Complex IV Deficiency, Complex V Deficiency, 7. The isolated ligand of claim 1 or 5 wherein the ligand CPEO, CPT I Deficiency, Glutaric Aciduria Type II, KSS, is CLK 2. lactic acidosis, LCAD, LCHAD, Leigh Disease, LHON, 8. The isolated ligand of claim 1 or 5 wherein the ligand Luft Disease, MAD, MCA, MELAS, MERRF, mitochon is CLK 4. drial DNA depletion, Mitochondrial Encephalopath, 9. A method for modulating interaction between Beacon MNGIE, NARP Pearson Syndrome, Pyruvate Carboxylase and a CLK in a mammal in order to treat one or more of a Deficiency, Pyruvate Dehydrogenase Deficiency, SCAD, a healthy or unhealthy state, including the presence or SCHAD and VLCAD. absence of a disorder associated with myopathy, obesity, 13. The method of any one of claims 9 to 11, in the anorexia, weight maintenance, diabetes, disorders associ treatment of a disease selected from the group consisting of ated with mitochondrial dysfunction, genetic disorders, can A-Beta-Lipoproteinemia, A-V. A Beta-2-Microglobulin cer, heart disease, inflammation, disorders associated with Amyloidosis, A-T. A1AD. A1AT, Aagenaes, Aarskog syn the immune system, infertility, disease associated with the drome, Aarskog-Scott Syndrome, Aase-Smith syndrome, brain and/or metabolic energy levels, said method compris Aase Syndrome, AAT. Abderhalden-Kaufmann-Lignac Syn ing administering to a mammal an effective amount of a drome, Abdominal Muscle Deficiency Syndrome, Abdomi modulator of Beacon-lidgan interaction for a time and under nal Wall Defect, Abdominal Epilepsy, Abdominal Migraine, conditions sufficient to antagonize or agnoize the interac Abductor Spasmodic Dysphonia, Abductor Spastic Dyspho tion. nia, Abercrombie Syndrome, blepharon-Macrostomia Syn 10. A method of treating a mammal Suffering from a drome, ABS, Absence of HPRT, Absence of Corpus Callo condition characterized by one or more symptoms of a sum Schinzel Typ, Absence Defect of Limbs Scalp and healthy or unhealthy state, including the presence or absence Skull, Absence of Menstruation Primar, Absence of HGPRT, of a disorder associated with myopathy, obesity, anorexia, Absorptive Hyperoxaluriaor Enteric, Abt-Letterer-Siwe Dis weight maintenance, diabetes, disorders associated with ease, ACADL, ACADM Deficiency, ACADM, ACADS, mitochondrial dysfunction, genetic disorders, cancer, heart Acanthocytosis-Neurologic Disorder, Acanthocytosis, US 2007/01 35335 A1 Jun. 14, 2007 42

Acantholysis Bullosa, Acanthosis Nigricans, Acanthosis Associated Virilism of Older Women, Adenomatosis of the Bullosa, Acanthosis Nigricans With Insulin Resistance Type Colon and Rectum, Adenomatous polyposis of the Colon, A, Acanthosis Nigricans With Insulin Resistance Type B, Adenomatous Polyposis Familial, Adenosine Deaminase Acanthotic Nevus, Acatalasemia, Acatalasia, ACC. Acces Deficiency, Adenylosuccinase deficiency, ADHD predomi sory Atrioventricular Pathways, Acephaly, ACF with Car nantly hyperactive-impulsive type, ADHD predominantly diac Defects, Achalasia, Achard-Thiers Syndrome, inattentive type, ADHD, Adhesive Arachnoiditis, Adie Syn ACHARD (Marfan variant), Achard's syndrome, Acholuric drome, Adie's Syndrome, Adie's Tonic Pupil, Adie's Pupil, Jaundice, Achondrogenesis, Achondrogenesis Type IV. Adipogenital Retinitis Pigmentosa Polydactyly, Adipogeni Achondrogenesis Type III, Achondroplasia, Achondroplasia tal-Retinitis Pigmentosa Syndrome, Adiposa Dolorosa, Adi Tarda, Achondroplastic Dwarfism, Achoo Syndrome, Ach posis Dolorosa, Adiposogenital Dystrophy, Adolescent Cys romat, Achromatope, Achromatopic, Achromatopsia, Ach tinosis, ADPKD, Adrenal Cortex Adenoma, Adrenal romic Nevi, Acid Ceramidase Deficiency, Acid Maltase Disease, Adrenal Hyperfunction resulting from Pituitary Deficiency, Acid Beta-glucosidase Deficiency, Acidemia ACTH Excess, Adrenal Hypoplasia, Adrenal Insufficiency, Methylmalonic, Acidemia Propionic, Acidemia with Epi Adrenal Neoplasm, Adrenal Virilism, Adreno-Retinitis Pig sodic Ataxia and Weakness, Acidosis, Aclasis Tarsoepiphy mentosa-Polydactyly Syndrome, Adrenocortical Insuffi seal, ACM, Acoustic Neurilemoma, Acoustic Neuroma, ciency, Adrenocortical Hypofunction, Adrenocorticotropic ACPS with Leg Hypoplasia, ACPS II, ACPS IV, ACPS III, Hormone Deficiency Isolated, Adrenogenital Syndrome, Acquired Aphasia with Convulsive Disorder, Acquired Adrenoleukodystrophy, Adrenomyeloneuropathy, Adreno Brown Syndrome, Acquired Epileptic Aphasia, Acquired Retinitis Pigmentosa-Polydactyly Syndrome. Adult Cysti Factor XIII Deficiency, Acquired Form of ACC (caused by nosis, Adult Dermatomyositis, Adult Hypophosphatasia, infection while still in womb), Acquired Hyperoxaluria, Adult Macula Lutea Retinae Degeneration, Adult Onset Acquired Hypogammaglobulinemia, Acquired Immunode ALD, Adult-Onset Ceroidosis, Adult Onset Medullary Cys ficiency Syndrome (AIDS), Acquired Iron Overload, tic Disease, Adult Onset Pernicious Anemia, Adult Onset Acquired Lipodystrophy, Acquired Partial Lipodystrophy, Schindler Disease, Adult-Onset Subacute Necrotizing Acquired Wandering Spleen, ACR, Acral Dysostosis with Encephalomyelopathy, Adult Onset Pernicious Anemia, Facial and Genital Abnormalities, Acro Renal, Acrocallosal Adult Polycystic Kidney Disease, Adult Onset Medullary Syndrome Schinzel Type, Acrocephalosyndactyly, Acro Cystic Disease, AdynloSuccinate Lyase Deficiency, AE, cephaloSyndactyly Type I, AcrocephaloSyndactyly Type I AEC Syndrome, AFD, Afibrinogenemia, African Siderosis, Subtype I, Acrocephalopolysyndactyly Type II, Acrocepha AGA, Aganglionic Megacolon, Age Related Macular lopolysyndactyly Type III, Acrocephalopolysyndactyly Degeneration, Agenesis of Commissura Magna Cerebri, Type IV. Acrocephalosyndactyly V (ACS5 or ACSV) Sub Agenesis of Corpus Callosum, Agenesis of Corpus Callo type I, Acrocephaly Skull Asymmetry and Mild Syndactyly, Sum-Infantile Spasms-Ocular Anomalies, Agenesis of Cor Acrocephaly, Acrochondrohyperplasia, Acrodermatitis pus Callosum and Chorioretinal Abnormality, Agenesis of Enteropathica, Acrodysostosis, Acrodystrophic Neuropathy, Corpus Callosum-Chorioretinitis Abnormality, Aggressive Acrodystrophic Neuropathy, Acrofacial Dysostosis Nager mastocytosis, Agnosis Primary, AGR Triad, AGU, Agyria, Type, Acrofacial Dysostosis Nager Type, Acrofacial Dysos Agyria-pachygria-band spectrum, AHC, AHD. AHDS, AHF tosis Postaxial Type, Acrofacial Dysostosis Type Genee Deficiency, AHG Deficiency, AHO, Ahumada Del Castillo, Wiedep, Acrogeria Familial, Acromegaly, Acromelalgia Aicardi Syndrome, AIED, AIMP, AIP. AIS, Akinetic Sei Hereditary, Acromesomelic Dysplasia, Acromesomelic Zure, ALA-D Porphyria, Alactasia, Alagille Syndrome, Dwarfism, Acromicric Skeletal Dysplasia, Acromicric Dys Aland Island Eye Disease (X-Linked), Alaninuria, Albers plasia, Acroosteolysis with Osteoporosis and Changes in Schonberg Disease, Albinism, Albinismus, Albinoidism, Skull and Mandible, Acroosteolysis, Acroparesthesia, ACS Albright Hereditary Osteodystrophy, Alcaptonuria, Alcohol I, ACS Type II, ACS Type III, ACS, ACS3, ACTH Defi Related Birth Defects, Alcoholic Embryopathy, ALD, ciency, Action Myoclonus, Acute Brachial Neuritis Syn Aldosterone, Aldosteronism With Normal Blood Pressure, drome, Acute Brachial Radiculitis Syndrome, Acute Cere Aldrich Syndrome, Alexander's Disease, Algodystrophy, bral Gaucher Disease, Acute Cholangitis, Acute Algoneurodystrophy, Alkaptonuria, Alkaptonuric Ochrono Disseminated Encephalomyeloradiculopathy, Acute Dis sis, Alkyl DHAP synthase deficiency, Allan-Herndon-Dud seminated Histiocytosis-X, Acute Hemorrhagic Polioen ley Syndrome, Allan-Herndon Syndrome, Allan-Herndon cephalitis, Acute Idiopathic Polyneuritis, Acute Immune Dudley Mental Retardation, Allergic Granulomatous Antitis, Mediation Polyneuritis, Acute Infantile Pelizaeus Allergic Granulomatous Angiitis of Cronkhite-Canada, Alo Merzbacher Brain Sclerosis, Acute Intermittant Porphyria, bar Holoprosencephaly, Alopecia Areata, Alopecia Celsi, Acute Porphyrias, Acute Sarcoidosis, Acute Shoulder Neu Alopecia Cicatrisata, Alopecia Circumscripta, Alopecia-Po ritis, Acute Toxic Epidermolysis, Acyl-CoA Dehydrogenase liosis-Uveitis-Vitiligo-Deafness-Cutaneous-Uveo-O, Alope Deficiency Long-Chain, Acyl-CoA Dehydrogenase Defi cia Seminuniversalis, Alopecia Totalis, Alopecia Universa ciency Short-Chain, Acyl-CoA Dihydroxyacetone Acyl lis, Alpers Disease, Alpers Diffuse Degeneration of Cerebral transferase, Acyl-coenzyme A Oxidase Deficiency, ADA, Gray Matter with Hepatic Cirrhosis, Alpers Progressive ADA Deficiency, Adam Complex, Adamantiades-Behcet’s Infantile Poliodystrophy, Alpha-1-Antitrypsin Deficiency, Syndrome, Adamantinoma, Adams Oliver Syndrome, Adap Alpha-1 4 Glucosidase Deficiency, Alpha-Galactosidase A tive Colitis, ADD combined type, ADD, Addison Disease Deficiency, Alpha-Galactosidase B Deficiency, Alpha High with Cerebral Sclerosis, Addison's Anemia, Addison's Dis Density Lipoprotein Deficieny, Alpha-L-Fucosidase Defi ease, Addison-Biermer Anemia, Addison-Schilder Disease, ciency Fucosidosis Type 3, Alpha-GalNAc Deficiency Addisonian Pernicious Anemia, Addisonian Pernicious Ane Schindler Type, Alphalipoproteinemia, Alpha Mannosido mia, Adducted Thumbs-Mental Retardation, Adductor Spas sis, Alpha-N-Acetylgalactosaminidase Deficiency Schindler modic Dysphonia, Adductor Spastic Dysphonia, Adenoma Type, Alpha-NAGA Deficiency Schindler Type, Alpha US 2007/01 35335 A1 Jun. 14, 2007

Neuraminidase Deficiency, Alpha-Thalassemia/mental Congenita, Aplasia Cutis Congenita with Terminal Trans retardation Syndorme non-deletion type, Alphalipoproteine verse Limb Defects, Aplastic Anemia, Aplastic Anemia with mia, Alport Syndrome, ALS, Alstroem’s Syndrome, Congenital Anomalies, APLS, Apnea, Appalachian Type Alstroem, Alstrom Syndrome. Alternating Hemiplegia Syn Amyloidosis, Apple Peel Syndrome, Apraxia, Apraxia Buc drome. Alternating Hemiplegia of Childhood, Alzheimer's cofacial, Apraxia Constructional, Apraxia Ideational, Disease, Amaurotic Familial Idiocy, Amaurotic Familial Apraxia Ideokinetic, Apraxia Ideomotor, Apraxia Motor, Idiocy Adult, Amaurotic Familial Infantile Idiocy, Ambigu Apraxia Oculomotor, APS, Arachnitis, Arachnodactyly Con ous Genitalia, AMC, AMD, Ameloblastoma, Amelogenesis tractural Beals Type, Arachnodactyly, Arachnoid Cysts, Imperfecta, Amenorrhea-Galactorrhea Nonpuerperal, Arachnoiditis Ossificans, Arachnoiditis, Aran-Duchenne, Amenorrhea-Galactorrhea-FSH Decrease Syndrome, Amen Aran-Duchenne Muscular Atrophy, Aregenerative Anemia, orrhea, Amino Acid Disorders, Aminoaciduria-Osteomala Arginase Deficiency, Argininemia, Arginino Succinase Defi cia-Hyperphosphaturia Syndrome, AMN, Amniocentesis, ciency, Argininosuccinase Deficiency, Argininosuccinate Amniotic Band Syndrome, Amniotic Band Disruption Com Lyase Deficiency, Argininosuccinic Acid Lyase-ASL, plex, Amniotic Band Sequence, Amniotic Rupture Argininosuccinic Acid Synthetase Deficiency, Argininosuc Sequence, Amputation Congenital, AMS, Amsterdam Dwarf cinic Aciduria, Argonz-Del Castillo Syndrome, Arhinen Syndrome de Lange, Amylo-1 6-Glucosidase Deficiency, cephaly, Armenian Syndrome, Arnold-Chiari Malformation, Amyloid Arthropathy of Chronic Hemodialysis, Amyloid Arnold-Chiari Syndrome, ARPKD, Arrhythmic Myoclonus, Corneal Dystrophy, Amyloid Polyneuropathy, Amyloidosis, Arrhythmogenic Right Ventricular Dysplasia, Arteriohepatic Amyloidosis of Familial Mediterranean Fever, Amylopecti Dysplasia, Arteriovenous Malformation, Arteriovenous nosis, Amyoplasia Congenita, Amyotrophic Lateral Sclero Malformation of the Brain, Arteritis Giant Cell, Arthritis, sis, Amyotrophic Lateral Sclerosis-Polyglucosan Bodies, Arthritis Urethritica, Arthro-Dento-Osteodysplasia, Arthro AN, AN 1, AN 2, Anal Atresia, Anal Membrane, Anal Rectal Ophthalmopathy, Arthrochalasis Multiplex Congenita, Malformations, Anal Stenosis, Analine 60 Amyloidosis, Arthrogryposis Multiplex Congenita, Distal, Type IIA, Analphalipoproteinemia, Analrectal, Anaplastic Astrocy ARVD, Arylsulfatase-B Deficiency, AS, ASA Deficiency, toma, Andersen Disease, Anderson-Fabry Disease, Ander Ascending Paralysis, ASD, Atrioseptal Defects, ASH, Ash Sen Glycogenosis, Anderson-Warburg Syndrome, Andre ermans Syndrome, Ashkenazi Type Amyloidosis, ASL Defi Syndrome, Andre Syndrome Type II, Androgen Insensitiv ciency, Aspartylglucosaminuria, Asperger's Syndrome, ity, Androgen Insensitivity Syndrome Partial, Androgen Asperger's Type Autism, Asphyxiating Thoracic Dysplasia, Insensitivity Syndrome, Anemia Autoimmune Hemolytic, Asplenia Syndrome, ASS Deficiency, Asthma, Astrocytoma Anemia Blackfan Diamond, Anemia, Congenital, Tripha Grade I (Benign), Astrocytoma Grade II (Benign), Asym langeal Thumb Syndrome, Anemia Hemolytic Cold Anti metric Crying Facies with Cardiac Defects, Asymmetrical body, Anemia Hemolytic with PGK Deficiency, Anemia septal hypertrophy, Asymptomatic Callosal Agenesis, AT, Pernicious, Anencephaly, Angelman Syndrome, Angio-OS AT m Deficiency, AT III Variant IA, AT III Variant Ib, AT3, teohypertrophy Syndrome, Angiofollicular Lymph Node Ataxia, Ataxia Telangiectasia, Ataxia with Lactic Acidosis Hyperplasia, Angiohemophilia, Angiokeratoma Corporis, Type II, Ataxia Cerebral Palsy, Ataxiadynamia, Ataxiophe Angiokeratoma Corporis Diffusum, Angiokeratoma Diffuse, mia, ATD, Athetoid Cerebral Palsy, Atopic Eczema, Atresia Angiomatosis Retina, Angiomatous Lymphoid, Angion of Esophagus with or without Tracheoesophageal Fistula, eurotic Edema Hereditary, Anhidrotic Ectodermal Dyspla Atrial Septal Defects, Atrial Septal Defect Primum, Atrial sia, Anhidrotic X-Linked Ectodermal Dysplasias, Aniridia, and Septal and Small Ventricular Septal Defect, Atrial Aniridia-Ambiguous Genitalia-Mental Retardation, Aniridia Flutter, Atrial Fibrillation, Atriodigital Dysplasia, Atriosep Associated with Mental Retardation, Aniridia-Cerebellar tal Defects, Atrioventricular Block, Atrioventricular Canal Ataxia-Mental Deficiency, Aniridia Partial-Cerebellar Defect, Atrioventricular Septal Defect, Atrophia Bulborum Ataxia-Mental Retardation, Aniridia Partial-Cerebellar Hereditaria, Atrophic Beriberi, Atrophy Olivopontocerebel Ataxia-Oligophrenia, Aniridia Type I, Aniridia Type II, lar, Attention Deficit Hyperactivity Disorder, Attentuated Aniridia-Wilms Tumor Association, Aniridia-Wilms Adenomatous Polyposis Coli, Atypical Amyloidosis, Atypi Tumor-Gonadoblastoma, Ankyloblepharon-Ectodermal cal Hyperphenylalaninemia, Auditory Canal Atresia, Defects-Cleft Lip/Palate, Ankylosing Spondylitis, Annular Auriculotemporal Syndrome, Autism, Autism Asperger's groves, Anodontia, Anodontia Vera, Anomalous Trichro Type, Autism Dementia Ataxia and Loss of Purposeful Hand masy, Anomalous Dysplasia of Dentin, Coronal Dentin Use, Autism Infantile Autism, Autoimmune Addison's Dis Dysplasia, Anomic Aphasia, Anophthalmia, Anosmia, Ante ease, Autoimmune Hemolytic Anemia, Autoimmune Hepa rior Bowing of the Legs with Dwarfism, Anterior Membrane titis, Autoimmune-Polyendocrinopathy-Candidias, Autoim Corneal Dystrophy, Anti-Convulsant Syndrome, Anti-Ep mune Polyglandular Disease Type I, Autosomal Dominant stein-Barr Virus Nuclear Antigen (EBNA) Antibody Defi Albinism, Autosomal Dominant Compelling Heliooph ciency, Antibody Deficiency, Antibody Deficiency with near thalmic Outburst Syndrome, Autosomal Dominant Desmin normal Immunoglobulins, Antihemophilic Factor Defi Distal myopathy with Late Onset, Autosomal Dominant ciency, Antihemophilic Globulin Deficiency, Antiphospho EDS, Autosomal Dominant Emery-Dreifuss Muscular Dys lipid Syndrome, Antiphospholipid Antibody Syndrome, trophy, Autosomal Dominant Keratoconus, Autosomal Antithrombin III Deficiency, Antithrombin III Deficiency Dominant Pelizaeus-Merzbacher Brain Sclerosis, Autoso Classical (Type I), Antitrypsin Deficiency, Antley-Bixler mal Dominant Polycystic Kidney Disease, Autosomal Syndrome, Antoni’s Palsy, Anxietas Tibialis, Aorta Arch Dominant Spinocerebellar Degeneration, Autosomal Reces Syndrome, Aortic and Mitral Atresia with Hypoplasic Left sive Agammaglobulinemia, Autosomal Recessive Centro Heart Syndrome, Aortic Stenosis, Aparoschisis, APC, nuclear myopathy, Autosomal Recessive Conradi-Huner APECED Syndrome, Apert Syndrome, Aperts, Aphasia, mann Syndrome, Autosomal Recessive EDS, Autosomal Aplasia Axialis Extracorticales Congenital, Aplasia Cutis Recessive Emery-Dreifuss Muscular Dystrophy, Autosomal US 2007/01 35335 A1 Jun. 14, 2007 44

Recessive Forms of Ocular Albinism, Autosomal Recessive Nevus, Blue Baby, Blue Diaper Syndrome, BMD, BOD, Inheritance Agenesis of Corpus Callosum, Autosomal BOFS, Bone Tumor-Epidermoid Cyst-Polyposis, Bonnet Recessive Keratoconus, Autosomal Recessive Polycystic Dechaume-Blanc Syndrome, Bonnevie-Ulrich Syndrome, Kidney Disease, Autosomal Recessive Severe Combined Book Syndrome, BOR Syndrome. BOR.J. Borjeson Syn Immunodeficiency, AV, AVM, AVSD, AWTA, Axilla drome, Borjeson-Forssman-Lehmann Syndrome, Bowen Abscess, AXonal Neuropathy Giant, Azorean Neurologic Syndrome, Bowen-Conradi Syndrome, Bowen-Conradi Disease, B-K Mole Syndrome, Babinski-Froelich Syn Hutterite, Bowen-Conradi Type Hutterite Syndrome, Bow drome. BADS, Baillarger's Syndrome, Balkan Disease, man's Layer, BPEI, BPES, Brachial Neuritis, Brachial Neu Baller-Gerold Syndrome, Ballooning Mitral Valve, Balo ritis Syndrome, Brachial Plexus Neuritis, Brachial-Plexus Disease Concentric Sclerosis, Baltic Myoclonus Epilepsy, Neuropathy, Brachiocephalic Ischemia, Brachmann-de Bannayan-Zonana syndrome (BZS), Bannayan-Riley-Ru Lange Syndrome, Brachycephaly, Brachymorphic Type valcaba syndrome, Banti’s Disease, Bardet-Biedl Syn Congenital, Bradycardia, Brain Tumors, Brain Tumors drome, Bare Lymphocyte Syndrome, Barlow's syndrome, Benign, Brain Tumors Malignant, Branched Chain Alpha Barraquer-Simons Disease, Barrett Esophagus, Barrett Ketoacid Dehydrogenase Deficiency, Branched Chain Keto Ulcer, Barth syndrome, Bartter's Syndrome, Basal Cell nuria I, Brancher Deficiency, Branchio-Oculo-Facial Syn Nevus Syndrome, Basedow Disease, Bassen-Kornzweig drome, Branchio-Oto-Renal Dysplasia, Branchio-Oto-Renal Syndrome, Batten Disease, Batten-Mayou Syndrome, Bat Syndrome, Branchiooculofacial Syndrome, Branchiootic ten-Spielmeyer-Vogt's Disease, Batten Turner Syndrome, Syndrome, Brandt Syndrome, Brandywine Type Dentino Batten Turner Type Congenital myopathy, Batten-Vogt Syn genesis Imperfecta, Breast Cancer, BRIC Syndrome, Brittle drome, BBB Syndrome, BBBG Syndrome, BCKD Defi Bone Disease, Broad Beta Disease, Broad Thumb Syn ciency, BD, BDLS, BE, Beals Syndrome, Beals-Hecht Syn drome, Broad Thumbs and Great Toes Characteristic Facies drome, Bean Syndrome, BEB, Bechterew Syndrome, and Mental Retardation, Broad Thumb-Hallux, Broca's Becker Disease. Becker Muscular Dystrophy, Becker Aphasia, Brocq-Duhring Disease, Bronze Diabetes, Bronze Nevus, Beckwith Wiedemann Syndrome. Beckwith-Syn Schilder's Disease, Brown Albinism, Brown Enamel drome, Begnez-Cesar's Syndrome, Behcet’s syndrome, Hereditary, Brown-Sequard Syndrome, Brown Syndrome, Behcet’s Disease, Behr 1, Behr 2, Bell's Palsy, Benign BRRS, Brueghel Syndrome, Bruton’s Agammaglobuline Acanthosis Nigricans, Benign Astrocytoma, Benign Cranial mia Common, BS, BSS, Buchanan’s Syndrome, Budd's Nerve Tumors, Benign Cystinosis, Benign Essential Ble Syndrome, Budd-Chiari Syndrome, Buerger-Gruetz Syn pharospasm, Benign Essential Tremor, Benign Familial drome, Bulbospinal Muscular Atrophy-X-linked, Bulldog Hematuria, Benign Focal Amyotrophy, Benign Focal Amyo Syndrome, Bullosa Hereditaria, Bullous CIE, Bullous Con trophy of ALS, Benign Hydrocephalus, Benign Hypermo genital Ichthyosiform Erythroderma, Bullous Ichthyosis, bility Syndrome, Benign Keratosis Nigricans, Benign Par Bullous Pemphigoid, Burkitt's Lymphoma, Burkitt's Lym oxysmal Peritonitis, Benign Recurrent Hematuria, Benign phoma African type, Burkitt's Lymphoma Non-african type, Recurrent Intrahepatic Cholestasis, Benign Spinal Muscular BWS, Byler's Disease, C Syndrome, C1 Esterase Inhibitor Atrophy with Hypertrophy of the Calves, Benign Symmetri Dysfunction Type II Angioedema, C1-INH, C1 Esterase cal Lipomatosis, Benign Tumors of the Central Nervous Inhibitor Deficiency Type I Angioedema, C1 NH, Cacchi System, Berardinelli-Seip Syndrome, Berger's Disease, Ricci Disease, CAD, CADASIL, CAH, Calcaneal Valgus, Beriberi, Berman Syndrome, Bernard-Horner Syndrome, Calcaneovalgus, Calcium Pyrophosphate Dihydrate Depos Bernard-Soulier Syndrome, Besnier Prurigo, Best Disease, its, Callosal Agenesis and Ocular Abnormalities, Calves Beta-Alanine-Pyruvate Aminotransferase, Beta-Galactosi Hypertrophy of Spinal Muscular Atrophy, Campomelic Dys dase Deficiency Morquio Syndrome, Beta-Glucuronidase plasia, Campomelic Dwarfism, Campomelic Syndrome, Deficiency, Beta Oxidation Defects, Beta Thalassemia Camptodactyly-Cleft Palate-Clubfoot, Camptodactyly-Lim Major, Beta Thalassemia Minor, Betalipoprotein Deficiency, ited Jaw Excursion, Camptomelic Dwarfism, Camptomelic Bethlem myopathy, Beuren Syndrome, BH4. Deficiency, Syndrome, Camptomelic Syndrome Long-Limb Type, BH4 Deficiency, Biber-Haab-Dimmer Corneal Dystrophy, Camurati-Engelmann Disease, Canada-Cronkhite Disease, Bicuspid Aortic Valve, Biedl-Bardet, Bifid Cranium, Bifunc Canavan disease, Canavan's Disease Included, Canavan's tional Enzyme Deficiency, Bilateral Acoustic Neurofibro Leukodystrophy, Cancer, Cancer Family Syndrome Lynch matosis, Bilateral Acoustic Neuroma, Bilateral Right-Sid Type, Cantrell Syndrome, Cantrell-Haller-Ravich Syn edness Sequence, Bilateral Renal Agenesis, Bilateral drome, Cantrell Pentalogy, Carbamyl Phosphate Synthetase Temporal Lobe Disorder, Bilious Attacks, Bilirubin Glucu Deficiency, Carbohydrate Deficient Glycoprotein Syn ronosyltransferase Deficiency Type I, Binder Syndrome, drome, Carbohydrate-Deficient Glycoprotein Syndrome Binswanger's Disease, Binswanger's Encephalopathy, Bio Type Ia, Carbohydrate-Induced Hyperlipemia, Carbohydrate tinidase deficiency, Bird-Headed Dwarfism Seckel Type, Intolerance of Glucose Galactose, Carbon Dioxide Acidosis, Bitemporal Forceps Marks Syndrome, Biventricular Fibro Carboxylase Deficiency Multiple, Cardiac-Limb Syndrome, sis, Bjornstad Syndrome, B-K Mole Syndrome, Black Cardio-auditory Syndrome, Cardioauditory Syndrome of Locks-Albinism-Deafness of Sensoneural Type (BADS), Jervell and and Lange-Nielsen, Cardiocutaneous Syndrome, Blackfan-Diamond Anemia, Blennorrheal Idiopathic Arthri Cardio-facial-cutaneous syndrome, Cardiofacial Syndrome tis, Blepharophimosis-Ptosis-Epicanthus Inversus Syn Cayler Type, Cardiomegalia Glycogenica Diffusa, Cardi drome, Blepharospasm, Blepharospasm Benign Essential, omyopathic Lentiginosis, Cardiomyopathy, Cardiomyopa Blepharospasm Oromandibular Dystonia, Blessig Cysts, thy Associated with Desmin Storage myopathy, Cardio BLFS, Blindness, Bloch-Siemens Incontinentia Pigmenti myopathy Due to Desmin Defect, Cardio myopathy-Neu Melanoblastosis Cutis Linearis, Bloch-Siemens-Sulzberger tropenia Syndrome, Cardio myopathy-Neutropenia Syn Syndrome, Bloch-Sulzberger Syndrome, Bloom Syndrome, drome Lethal Infantile Cardio myopathy, Cardiopathic Bloom-Torre-Mackacek Syndrome, Blue Rubber Bleb Amyloidosis, Cardiospasm, Cardocardiac Syndrome, Car US 2007/01 35335 A1 Jun. 14, 2007 nitine-Acylcarnitine Translocase Deficiency, Carnitine Defi Dysplasias, Chediak-Higashi Syndrome, Chediak-Stein ciency and Disorders, Carnitine Deficiency Primary, Car brinck-Higashi Syndrome, Cheilitis Granulomatosa, nitine Deficiency Secondary, Carnitine Deficiency Cheiloschisis, Chemke Syndrome, Cheney Syndrome, Secondary to MCAD Deficiency, Carnitine Deficiency Syn Cherry Red Spot and Myoclonus Syndrome, CHF, CHH, drome, Carnitine Palmitoyl Transferase I & II (CPT I & II). Chiaris Disease, Chiari Malformation I, Chiari Type II Carnitine Palmitoyltransferase Deficiency, Carnitine Palmi (Chiari Malformation II), Chiari I Syndrome, Chiari-Budd toyltransferase Deficiency Type 1, Carnitine Palmitoyltrans Syndrome, Chiari-Frommel Syndrome, Chiari Malforma ferase Deficiency Type 2 benign classical muscular form tion II, CHILD Syndrome, CHILD Ichthyosis Syndrome, included severe infantile form included, Carnitine Transport CHILD Syndrome Ichthyosis, Childhood Adrenoleukodys Defect (Primary Carnitine Deficiency), Carnosinase Defi trophy, Childhood Dermatomyositis, Childhood-onset Dys ciency, Carnosinemia, Caroli Disease, Carpenter syndrome, tonia, Childhood Cyclic Vomiting, Childhood Giant Axonal Carpenters, Cartilage-Hair Hypoplasia, Cartilage-Hair Neuropathy, Childhood Hypophasphatasia, Childhood Mus Hypoplasia, Castleman's Disease, Castleman's Disease cular Dystrophy, CHN, Cholestasis, Cholestasis Hereditary Hyaline Vascular Type, Castleman's Disease Plasma Cell Norwegian Type, Cholestasis Intrahepatic, Cholestasis Neo Type, Castleman Tumor, Cat Eye Syndrome, Cat's Cry natal, Cholestasis of Oral Contraceptive Users, Cholestasis Syndrome, Catalayse deficiency, Cataract-Dental Syn with Peripheral Pulmonary Stenosis, Cholestasis of Preg drome, Cataract X-Linked with Hutchinsonian Teeth, Cat nancy, Cholesterol Desmolase Deficiency, Chondrodyspla echolamine hormones, Catel-Manzke Syndrome, Catel sia Punctata, Chondrodystrophia Calcificans Congenita, Manzke Type Palatodigital Syndrome, Caudal Dysplasia, Chondrodystrophia Fetalis, Chondrodystrophic Myotonia, Caudal Dysplasia Sequence, Caudal Regression Syndrome, Chondrodystrophy, Chondrodystrophy with Clubfeet, Chon Causalgia Syndrome Major, Cavernomas, Cavernous drodystrophy Epiphyseal, Chondrodystrophy Hyperplastic Angioma, Cavernous Hemangioma, Cavernous Lymphan Form, Chondroectodermal Dysplasias, Chondrogenesis gioma, Cavernous Malformations, Cayler Syndrome, Imperfecta, Chondrohystrophia, Chondroosteodystrophy, Cazenave's Vitiligo, CBGD, CBPS, CCA, CCD, CCD, Choreoacanthocytosis, Chorionic Villi Sampling, Chori CCHS, CCM Syndrome, CCMS, CCO, CD, CDG 1a, oretinal Anomalies, Chorioretinal Anomalies with ACC, CDG1A, CDGS Type Ia, CDI, CdLS, Celiac Disease, Celiac Chorireninal Coloboma-Joubert Syndrome, Choroidal Scle sprue, Celiac Sprue-Dermatitis, Cellelar Immunodeficiency rosis, Choroideremia, Chotzen Syndrome, Chotzen Syn with Purine Nucleoside Phosphorylase Deficiency, Celsus' drome, Christ-Siemens-Touraine Syndrome, Christ-Si Vitiligo, Central Apnea, Central Core Disease, Central Core emans-Touraine Syndrome, Christmas Disease, Christmas Disease, Central Diabetes Insipidus, Central Form Neurofi Tree Syndrome, Chromosome 3 Deletion of Distal 3p, bromatosis, Central Hypoventilation, Central Sleep Apnea, Chromosome 3 Distal 3p Monosomy, Chromosome 3-Distal Centrifugal Lipodystrophy, Centronuclear myopathy, CEP. 3q2 Duplication, Chromosome 3-Distal 3q2 Trisomy, Chro Cephalocele, Cephalothoracic Lipodystrophy, Ceramide mosome 3 Monosomy 3p2, Chromosome 3q Partial Dupli Trihexosidase Deficiency, Cerebellar Agenesis, Cerebellar cation Syndrome, Chromosome 3q, Partial Trisomy Syn Aplasia, Cerebellar Hemiagenesis, Cerebellar Hypoplasia, drome, Chromosome 3-Trisomy 3q2, Chromosome 4 Cerebellar Vermis Aplasia, Cerebellar Vermis Agenesis Deletion 4q31-qter Syndrome, Chromosome 4 Deletion Hypernea-Episodic Eye Moves-Ataxia-Retardation, Cer 4q32-qter Syndrome, Chromosome 4 Deletion 4q33-qter ebellar Syndrome, Cerebellarparenchymal Disorder IV, Cer Syndrome, Chromosome 4 Long Arm Deletion, Chromo ebellomedullary Malformation Syndrome, Cerebello Some 4 Long Arm Deletion, Chromosome 4 Monosomy 4q. Oculocutaneous Telangiectasia, Cerebelloparenchymal Chromosome 4-Monosomy 4q, Chromosome 4 Monosomy Disorder IV Familial, Cerebellopontine Angle Tumor, Cere Distal 4q, Chromosome 4 Partial Deletion 4p, Chromosome bral Arachnoiditis, Cerebral Autosomal Dominant Arteri 4, Partial Deletion of the Short Arm, Chromosome 4 Partial opathy with Subcortical Infarcts and Leukodystrophy, Cere Monosomy of Distal 4q, Chromosome 4 Partial Monosomy bral Beriberi, Cerebral Diplegia, Cerebral Gigantism, 4p, Chromosome 4 Partial Trisomy 4 (q25-qter), Chromo Cerebral Malformations Vascular, Cerebral Palsy, Cerebro some 4 Partial Trisomy 4 (q26 or q27-qter), Chromosome 4 Oculorenal Dystrophy, Cerebro-Oculo-Facio-Skeletal Syn Partial Trisomy 4 (q31 or 32-qter), Chromosome 4 Partial drome, Cerebrocostomandibular syndrome, Cerebrohepato Trisomy 4p, Chromosome 4 Partial Trisomies 4q2 and 4q3. renal Syndrome, Cerebromacular Degeneration, Chromosome 4 Partial Trisomy Distal 4, Chromosome 4 Cerebromuscular Dystrophy Fukuyama Type, Cerebroocu Ring, Chromosome 4 4q Terminal Deletion Syndrome, lar Dysgenesis, Cerebroocular Dysplasia-Muscular Dystro Chromosome 4q-Syndrome, Chromosome 4 Trisomy 4, phy Syndrome, Cerebrooculofacioskeletal Syndrome, Cere Chromosome 4 Trisomy 4p, Chromosome 4 XY/47 XXY broretinal Arteriovenous Aneurysm, Cerebroside Lipidosis, (Mosiac), Chromosome 5 Monosomy 5p, Chromosome 5, Cerebrosidosis, Cerebrotendinous Xanthomatosis, Cere Partial Deletion of the Short Arm Syndrome, Chromosome brovascular Ferrocalcinosis, Ceroid-Lipofuscinosis Adult 5 Trisomy 5p, Chromosome 5 Trisomy 5p Complete (5p11 form, Cervical Dystonia, Cervical Dystonia, Cervico-Oculo pter), Chromosome 5 Trisomy 5p Partial (5 p.13 or 14-pter), Acoustic Syndrome, Cervical Spinal Stenosis, Cervical Ver Chromosome 5p-Syndrome, Chromosome 6 Partial Trisomy tebral Fusion, CES, CF, CFC syndrome, CFIDS, CFND, 6q, Chromosome 6 Ring, Chromosome 6 Trisomy 6q2. CGD, CGF, CGF. Chalasodermia Generalized, Chanarin Chromosome 7 Monosomy 7p2, Chromosome 7 Partial Dorfman Disease, Chanarin Dorfman Syndrome, Chanarin Deletion of Short Arm (7p2-), Chromosome 7 Terminal 7p Dorfman Ichthyosis Syndrome, Chandler's Syndrome, Deletion del (7) (p21-p22), Chromosome 8 Monosomy Charcot's Disease, Charcot-Marie-Tooth, Charcot-Marie 8p2, Chromosome 8 Monosomy 8p21-pter, Chromosome 8 Tooth Disease, Charcot-Marie-Tooth Disease Variant, Char Partial Deletion (short arm), Chromosome 8 Partial Mono cot-Marie-Tooth-Roussy-Levy Disease, CHARGE Associa somy 8p2, Chromosome 9 Complete Trisomy 9P, Chromo tion, CHARGE Syndrome, Chaund's Ectodermal some 9 Partial Deletion of Short Arm, Chromosome 9 Partial US 2007/01 35335 A1 Jun. 14, 2007 46

Monosomy 9p, Chromosome 9 Partial Monosomy 9p22. phimosis Lagophthalmos and Hypertelorism, Cleft Lip/Pal Chromosome 9 Partial Monosomy 9p22-pter, Chromosome ate with Abnormal Thumbs and Microcephaly, Cleft palate 9 Partial Trisomy 9P Included, Chromosome 9 Ring, Chro joint contractures-dandy walker malformations, Cleft Palate mosome 9 Tetrasomy 9p, Chromosome 9 Tetrasomy 9p and Cleft Lip, Cleidocranial Dysplasia w/ Micrognathia, Mosaicism, Chromosome 9 Trisomy 9p. (Multiple Variants), Absent Thumbs, & Distal Aphalangia, Cleidocranial Dys Chromosome 9 Trisomy 9 (pter-p21 to q32) Included, Chro ostosis, Cleidocranial Dysplasia, Click murmur syndrome, mosome 9 Trisomy Mosaic, Chromosome 9 Trisomy CLN1, Clonic Spasmodic, Cloustons Syndrome, Clubfoot, Mosaic, Chromosome 10 Distal Trisomy 10q, Chromosome CMDI, CMM, CMT, CMTC, CMTX, COA Syndrome, 10 Monosomy, Chromosome 10 Monosomy 10p, Chromo Coarctation of the aorta, Coats Disease, Cobblestone dys some 10, Partial Deletion (short arm), Choromsome 10, plasia, Cochin Jewish Disorder, Cockayne Syndrome, COD 10p-Partial, Chromosome 10 Partial Trisomy 10q24-qter, MD Syndrome, COD, Coffin Lowry Syndrome, Coffin Syn Chromosome 10 Trisomy 10q2, Partial Monosomy of Long drome, Coffin Siris Syndrome, COFS Syndrome, Cogan Arm of Chromosome 11, Chromosome 11 Partial Mono Corneal Dystrophy, Cogan Reese Syndrome, Cohen Syn somy 11q, Chromosome 11 Partial Trisomy, Chromosome drome, Cold Agglutinin Disease, Cold Antibody Disease, 11 Partial Trisomy 11q13-qter, Chromosome 11 Partial Cold Antibody Hemolytic Anemia, Cold Agglutinin Dis Trisomy 11q21-qter, Chromosome 11 Partial Trisomy ease, Colitis Ulcerative, Colitis Gravis, Colitis Ulcerative 11q23-qter, Chromosome 11q, Partial Trisomy, Chromo Chronic Non-Specific Ulcerative Colitis, Collodion Baby, some 12 Isochromosome 12p Mosaic, Chromosome 13 Coloboma Heart Defects Atresia of the Choanae Retardation Partial Monosomy 13q, Chromosome 13, Partial Monosomy of Growth and Development Genital and Urinary Anomalies of the Long Arm, Chromosome 14 Ring, Chromosome 14 and Ear Anomalies, Coloboma, Colonic Neurosis, Color Trisomy, Chromosome 15 Distal Trisomy 15q, Chromosome blindness, Colpocephaly, Columnar-Like Esophagus, Com r15, Chromosome 15 Ring, Chromosome 15 Trisomy 15q2. bined Cone-Rod Degeneration, Combined Immunodefi Chromosome 15q Partial Duplication Syndrome, Chromo ciency with Immunoglobulins, Combined Mesoectodermal some 17 Interstitial Deletion 17p, Chromosome 18 Long Dysplasia, Common Variable Hypogammaglobulinemia, Arm Deletion Syndrome, Chromosome 18 Monosomy 18p. Common Variable Immunodeficiency, Common Ventricle, Chromosome 18 Monosomy 18Q, Chromosome 18 Ring, Communicating Hydrocephalus, Complete Absense of Chromosome 18 Tetrasomy 18p, Chromosome 18q-Syn Hypoxanthine-Guanine Phosphoribosyltranferase, Com drome, Chromosome 21 Mosaic 21 Syndrome, Chromo plete Atrioventricular Septal Defect, Complement Compo some 21 Ring, Chromosome 21 Translocation 21 Syndrome, nent 1 Inhibitor Deficiciency, Complement Component Cl Chromosome 22 Inverted Duplication (22pter-22q11), Regulatory Component Deficiency, Complete Heart Block, Chromosome 22 Partial Trisomy (22pter-22q11), Chromo Complex Carbohydrate Intolerance, Complex Regional Pain some 22 Ring, Chromosome 22 Trisomy Mosaic, Chromo Syndrome, Complex V ATP Synthase Deficiency, Complex some 48 XXYY. Chromosome 48 XXXY. Chromosome r15, I, Complex I NADH dehydrogenase deficiency, Complex II, Chromosomal Triplication, Chromosome Triplication, Complex II Succinate dehydrogenase deficiency, Complex Chromosome Triploidy Syndrome, Chromosome X, Chro III, Complex III Ubiquinone-cytochrome c oxidoreductase mosome XXY. Chronic Acholuric Jaundice, Chronic Adhe deficiency, Complex IV, Complex IV Cytochrome c oxidase sive Arachnoiditis, Chronic Adrenocortical Insufficiency, deficiency, Complex IV Deficiency, Complex V. Cone-Rod Chronic Cavernositis, Chronic Congenital Aregenerative Degeneration, Cone-Rod Degeneration Progressive, Cone Anemia, Chronic Dysphagocytosis, Chronic Familial Dystrophy, Cone-Rod Dystrophy, Confluent Reticular Pap Granulomatosis, Chronic Familial Icterus, Chronic Fatigue illomatosis, Congenital with low PK Kinetics, Congenital Immune Dysfunction Syndrome (CFIDS), Chronic Granu Absence of Abdominal Muscles, Congenital Absence of the lomatous Disease, Chronic Guillain-Barre Syndrome, Thymus and Parathyroids, Congenital Achromia, Congenital Chronic Idiopathic Jaundice, Chronic Idiopathic Polyneuri Addison's Disease, Congenital Adrenal Hyperplasia, Con tis (CIP), Chronic Inflammatory Demyelinating Polyneur genital Afibrinogenemia, Congenital Alveolar HypoVentila opathy, Chronic Inflammatory Demyelinating Polyradiculo tion, Congenital Anemia of Newborn, Congenital Bilateral neuropathy, Chronic Motor Tic, Chronic Mucocutaneous Persylvian Syndrome, Congenital Brown Syndrome, Con Candidiasis, Chronic Multiple Tics, Chronic Non-Specific genital Cardiovascular Defects, Congenital Central Ulcerative Colitis, Chronic Obliterative Cholangitis, Hypoventilation Syndrome, Congenital Cerebral Palsy, Chronic Peptic Ulcer and Esophagitis Syndrome, Chronic Congenital Cervical Synostosis, Congenital Clasped Thumb Progressive Chorea, Chronic Progressive External Ophthal with Mental Retardation, Congenital Contractural Arachno moplegia Syndrome, Chronic Progressive External Ophthal dactyly, Congenital Contractures Multiple with Arachnodac moplegia and myopathy, Chronic Progressive External Oph tyly, Congenital Cyanosis, Congenital Defect of the Skull thalmoplegia with Ragged Red Fibers, Chronic Relapsing and Scalp, Congenital Dilatation of Intrahepatic Bile Duct, Polyneuropathy, Chronic Sarcoidosis, Chronic Spasmodic Congenital Dysmyelinating Neuropathy, Congenital Dysph Dysphonia, Chronic Vomiting in Childhood, CHS, Churg agocytosis, Congenital Dysplastic Angiectasia, Congenital Strauss Syndrome, Cicatricial Pemphigoid, CIP, Cirrhosis Erythropoietic Porphyria, Congenital Erythropoietic Por Congenital Pigmentary, Cirrhosis, Cistinuria, Citrullinemia, phyria, Congenital Factor XIII Deficiency, Congenital Fail CJD. Classic Schindler Disease, Classic Type Pfeiffer Syn ure of Autonomic Control of Respiration, Congenital Famil drome, Classical Maple Syrup Urine Disease, Classical ial Nonhemolytic Jaundice Type I, Congenital Familial Hemophilia, Classical Form Cockayne Syndrome Type I Protracted Diarrhea, Congenital Form Cockayne Syndrome (Type A), Classical Leigh's Disease, Classical Phenylketo Type II (Type B), Congenital Generalized Fibromatosis, nuria, Classical X-Linked Pelizaeus-Merzbacher Brain Scle Congenital German Measles, Congenital Giant AXonal Neu rosis, CLE, Cleft Lip/Palate Mucous Cysts Lower Lip PP ropathy, Congenital Heart Block, Congenital Heart Defects, Digital and Genital Anomalies, Cleft Lip-Palate Blepharo Congenital Hemidysplasia with Ichthyosis Erythroderma US 2007/01 35335 A1 Jun. 14, 2007 47 and Limb Defects, Congenital Hemolytic Jaundice, Con ciency Type Benign Infantile Mitochondrial Mypoathy, CP, genital Hemolytic Anemia, Congenital Hepatic Fibrosis, CPEO, CPEO with myopathy, CPEO with Ragged-Red Congenital Hereditary Corneal Dystrophy, Congenital Fibers, CPPD Familial Form, CPT Deficiency, CPTD, Cra Hereditary Lymphedema, Congenital Hyperchondroplasia, nial Arteritis, Cranial Meningoencephalocele, Cranio-Oro Congenital Hypomyelinating Polyneuropathy, Congenital Digital Syndrome, Craniocarpotarsal dystrophy, Craniocele, Hypomyelination Neuropathy, Congenital Hypomyelina Craniodigital Syndrome-Mental Retardation Scott Type, tion, Congenital Hypomyelination Neuropathy, Congenital Craniofacial Dysostosis, Craniofacial Dysostosis-PD Arte Hypomyelination (Onion Bulb) Polyneuropathy, Congenital riosus-Hypertrichosis-Hypoplasia of Labia, Craniofrontona Ichthyosiform Erythroderma, Congenital Keratoconus, Con sal Dysplasia, Craniometaphyseal Dysplasia, Cranioorodigi genital Lactic Acidosis, Congenital Lactose Intolerance, tal Syndrome, Cranioorodigital Syndrome Type II, Congenital Lipodystrophy, Congenital Liver Cirrhosis, Con Craniostenosis Crouzon Type, Craniostenosis, Craniosynos genital Lobar Emphysema, Congenital Localized Emphy tosis-Choanal Atresia-Radial Humeral Synostosis, Cranio sema, Congenital Macroglossia, Congenital Medullary Synostosis-Hypertrichosis-Facial and Other Anomalies, Stenosis, Congenital Megacolon, Congenital Melanocytic Craniosynostosis Midfacial Hypoplasia and Foot Abnor Nevus, Congenital Mesodermal Dysmorphodystrophy, Con malities, Craniosynostosis Primary, Craniosynostosis-Ra genital Mesodermal Dystrophy, Congenital Microvillus dial Aplasia Syndrome, Craniosynostosis with Radial Atrophy, Congenital Multiple Arthrogryposis, Congenital. Defects, Cranium Bifidum, CREST Syndrome, Creutzfeldt Myotonic Dystrophy, Congenital Neuropathy caused by Jakob Disease, Cri du Chat Syndrome, Crib Death, Crigler Hypomyelination, Congenital Pancytopenia, Congenital Najjar Syndrome Type I, Crohn's Disease, Cronkhite Pernicious Anemia, Congenital Pernicious Anemia due to Canada Syndrome, Cross Syndrome, Cross Syndrome, Defect of Intrinsic Factor, Congenital Pernicious Anemia Cross-McKusick-Breen Syndrome, Crouzon, Crouzon Syn due to Defect of Intrinsic Factor, Congenital Pigmentary drome, Crouzon Craniofacial Dysostosis, Cryoglobulinemia Cirrhosis, Congenital Porphyria, Congenital Proximal Essential Mixed, Cryptophthalmos-Syndactyly Syndrome, myopathy Associated with Desmin Storage myopathy, Con Cryptorchidism-Dwarfism-Subnormal Mentality, Crystal genital Pulmonary Emphysema, Congenital Pure Red Cell line Corneal Dystrophy of Schnyder, CS, CSD, CSID, CSO, Anemia, Congenital Pure Red Cell Aplasia, Congenital CST Syndrome, Curly Hair-Ankyloblephanon-Nail Dyspla Retinal Blindness, Congenital Retinal Cyst, Congenital sia, Curschmann-Batten-Steinert Syndrome, Curth Macklin Retinitis Pigmentosa, Congenital Retinoschisis, Congenital Type Ichthyosis Hystric, Curth-Macklin Type, Cushings, Rod Disease, Congenital Rubella Syndrome, Congenital Cushing Syndrome, Cushing's III, Cutaneous Malignant Scalp Defects with Distal Limb Reduction Anomalies, Con Melanoma Hereditary, Cutaneous Porphyrias, Cutis Laxa, genital Sensory Neuropathy, Congenital SMA with arthro Cutis Laxa-Growth Deficiency Syndrome, Cutis Marmorata gryposis, Congenital Spherocytic Anemia, Congenital Telangiectatica Congenita, CVI. CVID, CVS, Cyclic vom Spondyloepiphyseal Dysplasia, Congenital Tethered Cervi iting syndrome, Cystic Disease of the Renal Medulla, Cystic cal Spinal Cord Syndrome, Congenital Tyrosinosis, Con Disease of the Renal Medulla, Cystic Hygroma, Cystic genital Varicella Syndrome, Congenital Vascular Cavernous Fibrosis, Cystic Lymphangioma, Cystine-Lysine-Arginine Malformations, Congenital Vascular Veils in the Retina, Ornithinuria, Cystine Storage Disease, Cystinosis, Cysti Congenital Word Blindness, Congenital Wandering Spleen nuria, Cystinuria with Dibasic Aminoaciduria, Cystinuria (Pediatric), Congestive Cardio myopathy, Conical Cornea, Type I, Cystinuria Type II, Cystinuria Type III, Cysts of the Conjugated Hyperbilirubinemia, Conjunctivitis, Conjunc Renal Medulla Congenital, Cysts of the Renal Medulla tivitis Ligneous, Conjunctivo-Urethro-Synovial Syndrome, Congenital, Cytochrome C. Oxidase Deficiency, D.C., Conn's Syndrome, Connective Tissue Disease, Conradi Dis Dacryosialoadenopathy, Dacryosialoadenopathia, Dalpro, ease, Conradi Hunermann Syndrome, Constitutional Aplas Dalton, Daltonism, Danbolt-Cross Syndrome, Dancing tic Anemia, Constitutional Erythroid Hypoplasia, Constitu Eyes-Dancing Feet Syndrome, Dandy-Walker Syndrome, tional Eczema, Constitutional Liver Dysfunction, Dandy-Walker Cyst, Dandy-Walker Deformity, Dandy Constitutional Thrombopathy, Constricting Bands Congeni Walker Malformation, Danish Cardiac Type Amyloidosis tal, Constrictive Pericarditis with Dwarfism, Continuous (Type III), Darier Disease, Davidson's Disease, Davies Muscle Fiber Activity Syndrome, Contractural Arachnodac Disease, DBA, DBS, DC, DD, De Barsy Syndrome, De tyly, Contractures of Feet Muscle Atrophy and Oculomotor Barsy-Moens-Diercks Syndrome, de Lange Syndrome, De Apraxia, Convulsions, Cooley's anemia, Copper Transport Morsier Syndrome, De Santis Cacchione Syndrome, de Disease, Coproporphyria Porphyria Hepatica, Cor Triatria Toni-Fanconi Syndrome, Deafness Congenital and Func tum, Cor Triatriatum Sinistrum, Cor Triloculare Biatriatum, tional Heart Disease, Deafness-Dwarfism-Retinal Atrophy, Cor Biloculare, Cori Disease, Cornea Dystrophy, Corneal Deafness-Functional Heart Disease, Deafness Onychodys Amyloidosis, Corneal Clouding-Cutis Laxa-Mental Retar trophy Osteodystrophy and Mental Retardation, Deafness dation, Corneal Dystrophy, Cornelia de Lange Syndrome, and Pili Torti Bjornstad Type, Deafness Sensorineural with Coronal Dentine Dysplasia, Coronary Artery Disease, Coro Imperforate Anus and Hypoplastic Thumbs, Debrancher nary Heart Disease, Corpus Callosum Agenesis, Cortical Deficiency, Deciduous Skin, Defect of Enterocyte Intrinsic Basal Ganglionic Degeneration, Corticalis Deformaris, Cor Factor Receptor, Defect of Enterocyte Intrinsic Factor tico-Basal Ganglionic Degeneration (CBGD), Corticobasal Receptor, Defect in Natural Killer Lymphocytes, Defect of Degeneration, Corticosterone Methloxidase Deficiency Renal Reabsorption of Carnitine, Deficiency of Glycopro Type I, Corticosterone Methyloxidase Deficiency Type II, tein Neuraminidase, Deficiency of Mitochondrial Respira Cortisol, Costello Syndrome, Cot Death, COVESDEM Syn tory Chain Complex IV. Deficiency of Platelet Glycoprotein drome, COX, COX Deficiency, COX Deficiency French Ib, Deficiency of Von Willebrand Factor Receptor, Defi Canadian Type, COX Deficiency Infantile Mitochondrial ciency of Short-Chain Acyl-CoA Dehydrogenase (ACADS, myopathy de Toni-Fanconi-Debre included, COX Defi Deformity with Mesomelic Dwarfism, Degenerative Cho US 2007/01 35335 A1 Jun. 14, 2007 48 rea, Degenerative Lumbar Spinal Stenosis, Degos Disease, Disorder of Cornification 14 Trichothiodystrophy Type, Dis Degos-Kohlmeier Disease, Degos Syndrome, DEH, order of Cornification 15 (Keratitis Deafness Type), Disor Dejerine-Roussy Syndrome, Deerine Sottas Disease, Dele der of Cornification 16, Disorder of Cornification 18 Eryth tion 9p Syndrome Partial, Deletion 11q Syndrome Partial, rokeratodermia Variabilis Type, Disorder of Cornification Deletion 13q Syndrome Partial, Delleman-Oorthuys Syn 19, Disorder of Cornification 20, Disorder of Cornification drome, Delleman Syndrome, Dementia with Lobar Atrophy 24, Displaced Spleen, Disseminated Lupus Erythematosus, and Neuronal Cytoplasmic Inclusions, Demyelinating Dis Disseminated Neurodermatitis, Disseminated Sclerosis, ease. DeMyer Syndrome, Dentin Dysplasia Coronal, Dentin Distal 11 q Monosomy, Distal 11q-Syndrome, Distal Arthro Dysplasia Radicular, Dentin Dysplasia Type I, Dentin Dys gryposis Multiplex Congenita Type IIA, Distal Arthrogry plasia Type II, Dentinogenesis Imperfecta Brandywine type, posis Multiplex Congenita Type IIA, Distal Arthrogryposis Dentinogenesis Imperfecta Shields Type, Dentinogenesis Type IIA, Distal Arthrogryposis Type 2A, Distal Duplication Imperfecta Shields Type, Dentinogenesis Imperfecta Type 6q Distal Duplication 10q, Dup(10q) Syndrome, Distal III, Dentinogenesis Imperfecta Type III, Dento-Oculo-Os Duplication 15q Distal Monosomy 9p, Distal Trisomy 6q, Seous Dysplasia, Dento-Oculo-Osseous Dysplasia, Den Distal Trisomy 10q Syndrome, Distal Trisomy 11q Dival tooculocutaneous Syndrome, Denys-Drash Syndrome, proex, DJS, DKC, DLE, DLPIII, DM, DMC Syndrome, Depakene, DepakeneTM exposure, Depakote, Depakote DMC Disease, DMD, DNS Hereditary, DOC 1, DOC 2. Sprinkle, Depigmentation-Gingival Fibromatosis-Mi DOC 4, DOC 6 (Harlequin Type), DOC 8 Curth-Macklin crophthalmia, Dercum Disease, Dermatitis Atopic, Derma Type, DOC 11 Phytanic Acid Type, DOC 12 (Neutral Lipid titis Exfoliativa, Dermatitis Herpetiformis, Dermatitis Mul Storage Type), DOC 13, DOC 14, DOC 14 Trichothiodys tiformis, Dermatochalasia Generalized, Dermatolysis trophy Type, DOC 15 (Keratitis Deafness Type), DOC 16, Generalized, Dermatomegaly, Dermatomyositis sine myosi DOC 16 Unilateral Hemidysplasia Type, DOC 18, DOC 19, tis, Dermatomyositis, Dermatosparaxis, Dermatostomatitis DOC 20, DOC 24, Dohle's Bodies-Myelopathy, Dolichos Stevens Johnson Type, Desbuquois Syndrome. Desmin Stor pondylic Dysplasia, Dolichostenomelia, DolichoStenomelia age myopathy, Desquamation of Newborn, Deuteranomaly, Syndrome, Dominant Type Kenny-Caffe Syndrome, Domi Deuteranomaly, Developmental Reading Disorder, Devel nant Type Myotonia Congenita, Donahue Syndrome, opmental Gerstmann Syndrome, Devergie Disease, Devic Donath-Landsteiner Hemolytic Anemia, Donath-Land Disease, Devic Syndrome, Dextrocardia-Bronchiectasis and steiner Syndrome, DOOR Syndrome, DOORS Syndrome, Sinusitis, Dextrocardia with Situs Inversus, DGS, DGSX Dopa-responsive Dystonia (DRD), Dorfman Chanarin Syn Golabi-Rosen Syndrome Included, DH, DHAP alkyl trans drome, Dowling-Meara Syndrome, Down Syndrome, DR ferase deficiency, DHBS Deficiency, DHOF, DHPR Defi Syndrome, Drash Syndrome, DRD, Dreifuss-Emery Type ciency, Diabetes Insipidus, Diabetes Insipidus Diabetes Muscular Dystrophy with Contractures, Dressler Syndrome, Mellitus Optic Atrophy and Deafness, Diabetes Insipidus Drifting Spleen, Drug-induced Acanthosis Nigricans, Drug Neurohypophyseal, Diabetes Insulin Dependent, Diabetes induced Lupus Erythematosus, Drug-related Adrenal Insuf Mellitus, Diabetes Mellitus Addison's Disease Myxedema, ficiency, Drummond's Syndrome, Dry Beriberi, Dry Eye, Diabetic Acidosis, Diabetic Bearded Woman Syndrome, DTD, Duane's Retraction Syndrome, Duane Syndrome, Diamond-Blackfan Anemia, Diaphragmatic Apnea, Diaphy Duane Syndrome Type IA 1B and 1C, Duane Syndrome seal Aclasis, Diastrophic Dwarfism, Diastrophic Dysplasia, Type 2A2B and 2C, Duane Syndrome Type 3A 3B and 3C, Diastrophic Nanism Syndrome, Dicarboxylic Aminoaci Dubin Johnson Syndrome, Dubowitz Syndrome, Duchenne, duria, Dicarboxylicaciduria Caused by Defect in Beta-Oxi Duchenne Muscular Dystrophy, Duchenne's Paralysis, dation of Fatty Acids, Dicarboxylicaciduria due to Defect in Duhring's Disease, Duncan's Disease, Duodenal Atresia, Beta-Oxidation of Fatty Acids, Dicarboxylicaciduria due to Duodenal Stenosis, Duodenitis, Duplication 4p Syndrome, MCADH Deficiency, Dichromasy, Dicker-Opitz, DID Duplication 6q Partial, Dupuy's Syndrome, Dupuytren’s MOAD. Diencephalic Syndrome, Diencephalic Syndrome Contracture, Dutch-Kennedy Syndrome, Dwarfism, Dwarf of Childhood, Diencephalic Syndrome of Emaciation, ism Campomelic, Dwarfism Cortical Thickening of the Dienoyl-CoA Reductase Deficiency. Diffuse Cerebral Tubular Bones & Transient Hypocalcemia, Dwarfism Levi's Degeneration in Infancy, Diffuse Degenerative Cerebral Type, Dwarfism Metatropic, Dwarfism-Onychodysplasia, Disease. Diffuse Idiopathic Skeletal Hyperostosis, Dif Dwarfism-Pericarditis, Dwarfism with Renal Atrophy and fusum-Glycopeptiduria, DiGeorge Syndrome, DiGeorge Deafness, Dwarfism with Rickets, DWM. Dyggve Melchior Syndrome, Digital-Oro-Cranio Syndrome, Digito-Oto-Pala Clausen Syndrome, Dysautonomia Familial, Dysbetalipo tal Syndrome, Digito-Oto-Palatal Syndrome Type I, Digito proteinemia Familial, Dyschondrodysplasia with Heman Oto-Palatal Syndrome Type II, Dihydrobiopterin Synthetase giomas, Dyschondrosteosis, Dyschromatosis Universalis Deficiency, Dihydrobiopterin Synthetase Deficiency, Dihy Hereditaria, Dysencephalia Splanchinocystica, Dyskeratosis dropteridine Reductase Deficiency, Dihydropteridine Congenita, Dyskeratosis Congenita Autosomal Recessive, Reductase Deficiency, Dihydroxyacetonephosphate Syn Dyskeratosis Congenita Scoggins Type, Dyskeratosis Con thase, Dilated (Congestive) Cardiomyopathy, Dimitri Dis genita Syndrome, Dyskeratosis Follicularis Vegetans, Dys ease, Diplegia of Cerebral Palsy, Diplo-Y Syndrome, Dis lexia, Dysmyelogenic Leukodystrophy, Dysmyelogenic accharidase Deficiency, Disaccharide Intolerance I, Discoid Leukodystrophy-Megalobare, Dysphonia Spastica, Dyspla Lupus, Discoid Lupus Erythematosus, DISH, Disorder of sia Epiphysialis Punctata, Dysplasia Epiphyseal Cornification, Disorder of Cornification Type I, Disorder of Hemimelica, Dysplasia of Nails With Hypodontia, Dyspla Cornification 4, Disorder of Cornification 6, Disorder of sia Cleidocranial, Dysplasia Fibrous, Dysplasia Gigantism Cornification 8, Disorder of Cornification 9 Netherton's Syndromex-Linked, Dysplasia Osteodental, Dysplastic Type, Disorder of Cornification 11 Phytanic Acid Type, Nevus Syndrome, Dysplastic Nevus Syndrome, Dysplastic Disorder of Cornification 12 (Neutral Lipid Storage Type), Nevus Type, Dyssynergia Cerebellaris Myoclonica, Dyssyn Disorder of Conification 13, Disorder of Cornification 14, ergia Esophagus, Dystonia, Dystonia, Dystopia Canthorum, US 2007/01 35335 A1 Jun. 14, 2007 49

Dystopia Canthorum, Dystrophia Adiposogenitalis, Dystro dermolysis Hereditaria Tarda, Epidermolytic Hyperkerato phia Endothelialis Cornea, Dystrophia Mesodermalis, Dys sis, Epidermolytic Hyperkeratosis (Bullous CIE), Epilepsia trophic Epidermolysis Bullosa, Dystrophy, Asphyxiating Procursiva, Epilepsy, Epinephrine, Epiphyseal Changes and Thoracic, Dystrophy Myotonic, E-D Syndrome, Eagle-Bar High Myopia, Epiphyseal Osteochondroma Benign, Epiphy rett Syndrome, Eales Retinopathy, Eales Disease, Ear sealis Hemimelica Dysplasia, Episodic-Abnormal Eye Anomalies-Contractures-Dysplasia of Bone with Movement, Epithelial Basement Membrane Corneal Dys Kyphoscoliosis, Ear Patella Short Stature Syndrome, Early trophy, Epithelial Corneal Dystrophy of Meesmann Juve Constraint Defects, Early Hypercalcemia Syndrome with nile, Epitheliomatosis Multiplex with Nevus, Epithelium, Elfin Facie, Early-onset Dystonia, Eaton Lambert Syn Epival, EPS, Epstein-Barr Virus-Induced Lymphoprolifera drome, EB, Ebstein's anomaly, EBV Susceptibility (EBVS), tive Disease in Males, Erb-Goldflam syndrome, Erdheim EBVS, ECD, ECPSG, Ectodermal Dysplasias, Ectodermal Chester Disease, Erythema Multiforme Exudativum, Dysplasia Anhidrotic with Cleft Lip and Cleft Palate, Ecto Erythema Polymorphe Stevens Johnson Type, Erythroblas dermal Dysplasia-Exocrine Pancreatic Insufficiency, Ecto tophthisis, Erythroblastosis Fetalis, Erythroblastosis Neona dermal Dysplasia Rapp-Hodgkin type, Ectodermal and torum, Erythroblastotic Anemia of Childhood, Erythrocyte Mesodermal Dysplasia Congenital, Ectodermal and Meso Phosphoglycerate Kinase Deficiency, Erythrogenesis Imper dermal Dysplasia with Osseous Involvement, Ectodermosis fecta, Erythrokeratodermia Progressiva Symmetrica, Eryth Erosiva Pluriorificialis, Ectopia Lentis, Ectopia Vesicae, rokeratodermia Progressiva Symmetrica Ichthyosis, Eryth Ectopic ACTH Syndrome, Ectopic Adrenocorticotropic rokeratodermia Variabilis, Erythrokeratodermia Variabilis, Hormone Syndrome, Ectopic Anus, Ectrodactilia of the Erythrokeratodermia Variabilis Type, Erythrokeratolysis Hand, Ectrodactyly, Ectrodactyly-Ectodermal Dysplasia Hiemalis, Erythrokeratolysis Hiemalis, Erythropoietic Por Clefting Syndrome, Ectrodactyly Ectodermal Dysplasia phyrias, Erythropoietic Porphyria, Escobar Syndrome, Cleft Lip/Cleft Palate, Eczema, Eczema-Thrombocytope Esophageal Atresia, Esophageal Aperistalsis, Esophagitis nia-Immunodeficiency Syndrome, EDA, EDMD, EDS, EDS Peptic Ulcer, Esophagus Atresia and/or Tracheoesophageal Arterial-Ecchymotic Type, EDS Arthrochalasia, EDS Clas Fistula, Essential Familial Hyperlipemia, Essential Fructo sic Severe Form, EDS Dysfibronectinemic, EDS Gravis Suria, Essential Hematuria, Essential Hemorrhagic Throm Type, EDS Hypermobility, EDS Kyphoscoliotic, EDS bocythemia, Essential Mixed Cryoglobulinemia, Essential Kyphoscoliosis, EDS Mitis Type, EDS Ocular-Scoliotic, Moschowitz Disease, Essential Thrombocythemia, Essential EDS Progeroid, EDS Periodontosis, EDS Vascular, EEC Thrombocythemia, Essential Thrombocytopenia, Essential Syndrome, EFE, EHBA, EHK, Ehlers Danlos Syndrome, Thrombocytosis, Essential Tremor, Esterase Inhibitor Defi Ehlers-Danlos syndrome, Ehlers Danlos IX, Eisenmenger ciency, Estren-Dameshek variant of Fanconi Anemia, Estro Complex, Eisenmenger's complex, Eisenmenger Disease, gen-related Cholestasis, ET, ETF, Ethylmalonic Adipicaci Eisenmenger Reaction, Eisenmenger Syndrome, Ekbom duria, Eulenburg Disease, pc, EVCS, Exaggerated Startle Syndrome, Ekman-Lobstein Disease, Ektrodactyly of the Reaction, Exencephaly, Exogenous Hypertriglyceridemia, Hand, Ektrodactyly of the Hand, EKV, Elastin fiber disor Exomphalos-Macroglossia-Gigantism Syndrom, Exoph ders, Elastorrhexis Generalized, Elastosis Dystrophica Syn thalmic Goiter, Expanded Rubella Syndrome, Exstrophy of drome, Elective Mutism (obsolete), Elective Mutism, Elec the Bladder, EXT, External Chondromatosis Syndrome, trocardiogram (ECG or EKG), Electron Transfer Extrahepatic Biliary Atresia, Extramedullary Plasmacy Flavoprotein (ETF) Dehydrogenase Deficiency: (GAII & toma, Exudative Retinitis, Eye Retraction Syndrome, FA1, MADD), Electrophysiologic study (EPS), Elephant Nails FAA, Fabry Disease, FAC, FACB, FACD, FACE, FACF, From Birth, Elephantiasis Congenita Angiomatosa, FACG, FACH, Facial Nerve Palsy, Facial Paralysis, Facial Hemangiectatic Hypertrophy, Elfin Facies with Hypercalce Ectodermal Dysplasias, Facial Ectodermal Dysplasia, Facio mia, Ellis-van Creveld Syndrome, Embryoma Kidney, Scapulo-Humeral Dystrophy, Facio-Auriculo-Vertebral Embryonal Adenomyosarcoma Kidney, Embryonal Carci Spectrum, Facio-cardio-cutaneous syndrome, Facio-Fronto nosarcoma Kidney, Embryonal Mixed Tumor Kidney, EMC, Nasal Dysplasia, Faciocutaneoskeletal Syndrome, Facio Emery Dreyfus Muscular Dystrophy, Emery-Dreifuss Mus digitogenital syndrome, Faciogenital dysplasia, Faciogeni cular Dystrophy, Emery–Dreifuss Syndrome, EMF, EMG topopliteal Syndrome, Faciopalatoosseous Syndrome, Syndrome, Empty Sella Syndrome, Encephalitis Periaxialis Faciopalatoosseous Syndrome Type II, Facioscapulo Diffusa, Encephalitis Periaxialis Concentrica, Encephalo humeral muscular dystrophy, Factitious Hypoglycemia, Fac cele, Encephalofacial Angiomatosis, Encephalopathy, tor VIII Deficiency, Factor IX Deficiency, Factor IX Defi Encephalotrigeminal Angiomatosis, Enchondromatosis with ciency, Factor XI Deficiency, Factor XII deficiency, Factor Multiple Cavernous Hemangiomas, Endemic Polyneuritis, XIII Deficiency, Fahr Disease, Fahr's Disease, Failure of Endocardial Cushion Defect, Endocardial Cushion Defects, Secretion Gastric Intrinsic Factor, Fairbank Disease, Fallots Endocardial Dysplasia, Endocardial Fibroelastosis (EFE). Tetralogy, Familial Acrogeria, Familial Acrogeria, Familial Endogenous Hypertriglyceridemia, Endolymphatic Acromicria, Familial Acromicria, Familial Adenomatous Hydrops, Endometrial Growths, Endometriosis, Endomyo Colon Polyposis, Familial Adenomatous Polyposis with cardial Fibrosis, Endothelial Corneal Dystrophy Congenital, Extraintestinal Manifestations, Familial Alobar Holoprosen Endothelial Epithelial Corneal Dystrophy, Endothelium, cephaly, Familial Alpha-Lipoprotein Deficiency, Familial Engelmann Disease, Enlarged Tongue, Enterocolitis, Amyotrophic Chorea with Acanthocytosis, Familial Enterocyte Cobalamin Malabsorption, Eosinophia Syn Arrhythmic Myoclonus, Familial Articular Chondrocalcino drome, Eosinophilic Cellulitis, Eosinophilic Fasciitis, Eosi sis, Familial Atypical Mole-Malignant Melanoma Syn nophilic Granuloma, Eosinophilic Syndrome, Epidermal drome, Familial Broad Beta Disease, Familial Calcium Nevus Syndrome, Epidermolysis bullosa, Epidermolysis Gout, Familial Calcium Pyrophosphate Arthropathy, Famil Bullosa, Epidermolysis Bullosa Acquisita, Epidermolysis ial Chronic Obstructive Lung Disease, Familial Continuous Bullosa Hereditaria, Epidermolysis Bullosa Letalias, Epi Skin Peeling, Familial Cutaneous Amyloidosis, Familial US 2007/01 35335 A1 Jun. 14, 2007 50

Dysproteinemia, Familial Emphysema, Familial Enteropa sia, Focal Dermato-Phalangeal Dysplasia, Focal Dystonia, thy Microvillus, Familial Foveal Retinoschisis, Familial Focal Epilepsy, Focal Facial Dermal Dysplasia Type II, Hibernation Syndrome, Familial High Cholesterol, Familial Focal Neuromyotonia, FODH, Folling Syndrome, Fong Hemochromatosis, Familial High Blood Cholesterol, Famil Disease, FOP, Forbes Disease, Forbes-Albright Syndrome, ial High-Density Lipoprotein Deficiency, Familial High Forestier's Disease, Forsius-Eriksson Syndrome Serum Cholesterol, Familial Hyperlipidema, Familial Hypo (X-Linked), Fothergill Disease, Fountain Syndrome, Foveal proteinemia with Lymphangietatic Enteropathy, Familial Dystrophy Progressive, FPO Syndrome Type II, FPO, Frac Jaundice, Familial Juvenile Nephronophtisis-Associated caro Type Achondrogenesis (Type IB), Fragile X syndrome, Ocular Anomaly, Familial Lichen Amyloidosis (Type IX), Franceschetti-Zwalen-Klein Syndrome, Francois Dysceph Familial Lumbar Stenosis, Familial Lymphedema Praecox, aly Syndrome, Francois-Neetens Speckled Dystrophy, Familial Mediterranean Fever, Familial Multiple Polyposis, Flecked Corneal Dystrophy, Fraser Syndrome, FRAXA, Familial Nuchal Bleb, Familial Paroxysmal Polyserositis, FRDA, Fredrickson Type I Hyperlipoproteinemia, Freeman Familial Polyposis Coli, Familial Primary Pulmonary Sheldon Syndrome, Freire-Maia Syndrome, Frey's Syn Hypertension, Familial Renal Glycosuria, Familial Splenic drome, Friedreich's Ataxia, Friedreich's Ataxia, Frie Anemia, Familial Startle Disease, Familial Visceral Amy dreich's Disease, Friedreich's Tabes, FRNS, Froelich's loidosis (Type VIII), FAMMM, FANCA, FANCB, FANCC, Syndrome. Frommel-Chiari Syndrome. Frommel-Chiari FANCD, FANCE, Fanconi Panmyelopathy, Fanconi Pancy Syndrome Lactation-Uterus Atrophy, Frontodigital Syn topenia, Fanconi II, Fanconi's Anemia, Fanconi's Anemia drome. Frontofacionasal Dysostosis, Frontofacionasal Dys Type I, Fanconi's Anemia Complementation Group, Fanco plasia, Frontonasal Dysplasia, Frontonasal Dysplasia with ni's Anemia Complementation Group A, Fanconi's Anemia Coronal Craniosynostosis, Fructose-1-Phosphate Aldolase Complementation Group B, Fanconi's Anemia Complemen Deficiency, Fructosemia, Fructosuria, Fryns Syndrome, tation Group C, Fanconi's Anemia Complementation Group FSH, FSHD, FSS, Fuchs Dystrophy, Fucosidosis Type 1, D. Fanconi's Anemia Complementation Group E, Fanconi's Fucosidosis Type 2, Fucosidosis Type 3, Fukuhara Syn Anemia Complementation Group G, Fanconi's Anemia drome, Fukuyama Disease, Fukuyama Type Muscular Dys Complementation Group H, Fanconi's Anemia Estren trophy, Fumarylacetoacetase deficiency. Furrowed Tongue, Dameshek Variant, FANF, FANG, FANH, FAP, FAPG, G Syndrome, G6PD Deficiency, G6PD, GA I, GA IIB, GA Farber's Disease, Farber's Lipogranulomatosis, FAS, Fast IIA, GA II, GAII & MADD, Galactorrhea-Amenorrhea ing Hypoglycemia, Fat-Induced Hyperlipemia, Fatal Granu Syndrome Nonpuerperal, Galactorrhea-Amenorrhea with lomatous Disease of Childhood, Fatty Oxidation Disorders, out Pregnancy, Galactosamine-6-Sulfatase Deficiency, Fatty Liver with Encephalopathy, FAV, FCH, FCMD, FCS Galactose-1-Phosphate Uridyl Transferase Deficiency, Syndrome, FD, FDH, Febrile Mucocutaneous Syndrome Galactosemia, GALB Deficiency, Galloway-Mowat Syn Stevens Johnson Type, Febrile Neutrophilic Dermatosis drome, Galloway Syndrome, GALT Deficiency, Gamma Acute, Febrile Seizures, Feinberg's syndrome, Feissinger globulin Deficiency, GAN, Ganglioside Neuraminidase Leroy-Reiter Syndrome, Female Pseudo-Turner Syndrome, Deficiency, Ganglioside Sialidase Deficiency, Gangliosido Femoral Dysgenesis Bilateral-Robin Anomaly, Femoral sis GM1 Type 1, Gangliosidosis GM2 Type 2, Gangliosi Dysgenesis Bilateral, Femoral Facial Syndrome. Femoral dosis Beta Hexosaminidase B Defeciency, Gardner Syn Hypoplasia-Unusual Facies Syndrome, Fetal Alcohol Syn drome, Gardner Syndrome, Gargoylism, Garies-Mason drome, Fetal Anti-Convulsant Syndrome, Fetal Cystic Syndrome, Gasser Syndrome, Gastric Intrinsic Factor Fail Hygroma, Fetal Effects of Alcohol, Fetal Effects of Chick ure of Secretion, Enterocyte Cobalamin, Gastrinoma, Gas enpox, Fetal Effects of Thalidomide, Fetal Effects of Vari tritis, Gastroesophageal Laceration-Hemorrhage, Gas cella Zoster Virus, Fetal Endomyocardial Fibrosis, Fetal trointestinal Polyposis and Ectodermal Changes, Face Syndrome, Fetal Iritis Syndrome, Fetal Transfusion Gastroschisis, Gaucher Disease, Gaucher-Schlagenhaufer, Syndrome, Fetal Valproate Syndrome, Fetal Valproic Acid Gayet-Wernicke Syndrome, GBS, GCA, GCM Syndrome, Exposure Syndrome, Fetal Varicella Infection, Fetal Vari GCPS, Gee-Herter Disease, Gee-Thaysen Disease, Gehrig's cella Zoster Syndrome, FFDD Type II, FG Syndrome, Disease, Gelineau's Syndrome, Genee-Wiedemann Syn FGDY, FHS, Fibrin Stabilizing Factor Deficiency, Fibrinase drome, Generalized Dystonia, Generalized Familial Neu Deficiency, Fibrinoid Degeneration of Astrocytes, Fibrinoid romyotonia, Generalized Fibromatosis, Generalized Flexion Leukodystrophy, Fibrinoligase Deficiency, Fibroblastoma Epilepsy, Generalized Glycogenosis, Generalized Hyper Perineural, Fibrocystic Disease of Pancreas, Fibrodysplasia hidrosis, Generalized Lipofuscinosis, Generalized Myasthe Ossificans Progressiva, Fibroelastic Endocarditis, Fibromy nia Gravis, Generalized Myotonia, Generalized Sporadic algia, Fibromyalgia-Fibromyositis, Fibromyositis, Fibrosing Neuromytonia, Genetic Disorders, Genital Defects, Genital Cholangitis, Fibrositis, Fibrous Ankylosis of Multiple and Urinary Tract Defects, Genital and Urinary Tract Joints, Fibrous Cavernositis, Fibrous Dysplasia, Fibrous Defects, Gerstmann Syndrome, Gerstmann Tetrad, GHBP. Plaques of the Penis, Fibrous Sclerosis of the Penis, Fickler GHD, GHR. Giant Axonal Disease, Giant Axonal Neuropa Winkler Type, Fiedler Disease, Fifth Digit Syndrome, Fil thy, Giant Benign Lymphoma, Giant Cell Glioblastoma ippi Syndrome, Finnish Type Amyloidosis (Type V). First Astrocytoma, Giant Cell Arteritis, Giant Cell Disease of the Degree Congenital Heart Block, First and Second Branchial Liver, Giant Cell Hepatitis, Giant Cell of Newborns Cirrho Arch Syndrome, Fischer's Syndrome, Fish Odor Syndrome, sis, Giant Cyst of the Retina, Giant Lymph Node Hyperpla Fissured Tongue, Flat Adenoma Syndrome, Flatau-Schilder sia, Giant Platelet Syndrome Hereditary, Giant Tongue. gic Disease, Flavin Containing Monooxygenase 2, Floating Macular Dystrophy, Gilbert's Disease, Gilbert Syndrome, Beta Disease, Floating-Harbor Syndrome, Floating Spleen, Gilbert-Dreyfus Syndrome, Gilbert-Lereboullet Syndrome, Floppy Infant Syndrome, Floppy Valve Syndrome, Fluent Gilford Syndrome, Gilles de la Tourette's syndrome, aphasia, FMD, FMF, FMO Adult Liver Form, FMO2, FND, Gillespie Syndrome, Gingival Fibromatosis-Abnormal Fin Focal Dermal Dysplasia Syndrome, Focal Dermal Hypopla gers Nails Nose Ear Splenomegaly, GLA Deficiency, GLA, US 2007/01 35335 A1 Jun. 14, 2007

GLB1, Glioma Retina, Global aphasia, Globoid Leukodys Disease, Hartnup Disorder, Hartnup Syndrome, Hashimo trophy, Glossoptosis Micrognathia and Cleft Palate, Gluco to's Disease, Hashimoto-Pritzker Syndrome, Hashimoto's cerebrosidase deficiency, Glucocerebrosidosis, Glucose-6- Syndrome, Hashimoto's Thyroiditis, Hashimoto's Thyroidi Phosphate Dehydrogenase Deficiency, Glucose-6-Phosphate tis, Hashimoto-Pritzker Syndrome, Hay Wells Syndrome, Tranport Defect, Glucose-6-Phospate Translocase Defi Hay-Wells Syndrome of Ectodermal Dysplasia, HCMM, ciency, Glucose-G-Phosphatase Deficiency, Glucose-Galac HCP, HCTD, HD, Heart-Hand Syndrome (Holt-Oram tose Malabsorption, Glucose-Galactose Malabsorption, Glu Type), Heart Disease, Hecht Syndrome, HED, Heerferdt cosyl Ceramide Lipidosis, Glutaric Aciduria I, Glutaric Waldenstrom and Lofgren's Syndromes, Hegglin's Disease, Acidemia I, Glutaric Acidemia II, Glutaric Aciduria II, Heinrichsbauer Syndrome, Hemangiomas, Hemangioma Glutaric Aciduria Type II, Glutaric Aciduria Type III, Glu Familial, Hemangioma-Thrombocytopenia Syndrome, taricacidemia I, Glutaricacidemia II, Glutaricaciduria I, Glu Hemangiomatosis Chondrodystrophica, Hemangiomatous taricaciduria II, Glutaricaciduria Type IIA, Glutaricaciduria Branchial Clefts-Lip Pseudocleft Syndrome, Hemifacial Type IIB, Glutaryl-CoA Dehydrogenase Deficiency, Glutau Microsomia, Hemimegalencephaly, Hemiparesis of Cere rate-Aspartate Transport Defect, Gluten-Sensitive Enteropa bral Palsy, Hemiplegia of Cerebral Palsy, Hemisection of the thy, Glycogen Disease of Muscle Type VII, Glycogen Stor Spinal Cord, Hemochromatosis, Hemochromatosis Syn age Disease I, Glycogen Storage Disease III, Glycogen drome, Hemodialysis-Related Amyloidosis, Hemoglobin Storage Disease IV. Glycogen Storage Disease Type V. Lepore Syndromes, Hemolytic Anemia of Newborn, Glycogen Storage Disease VI. Glycogen Storage Disease Hemolytic Cold Antibody Anemia, Hemolytic Disease of VII, Glycogen Storage Disease VIII, Glycogen Storage Newborn, Hemolytic-Uremic Syndrome, Hemolytic-Ure Disease Type II, Glycogenosis, Glycogenosis Type I, Gly mic Syndrome, Hemophilia, Hemophilia A, Hemophilia B, cogenosis Type IA, Glycogenosis Type IB, Glycogenosis Hemophilia B Factor IX, Hemophilia C, Hemorrhagic Dys Type II, Glycogenosis Type III, Glycogenosis Type IV. trophic Thrombocytopenia, Hemorrhagica Aleukia, Hemo Glycogenosis Type V. Glycogenosis Type VI. Glycogenosis siderosis, Hepatic Fructokinase Deficiency, Hepatic Phos Type VII, Glycogenosis Type VIII, Glycolic Aciduria, Gly phorylase Kinase Deficiency, Hepatic Porphyria, Hepatic colic Aciduria, Glycolipid Lipidosis, GM2 Gangliosidosis Porphyrias, Hepatic Veno-Occlusive Disease, Hepato-Renal Type 1, GM2 Gangliosidosis Type 1, GNPTA, Goitrous Syndrome, Hepatolenticular Degeneration, Hepatophospho Autoimmune Thyroiditis, Goldenhar Syndrome, Goldenhar rylase Deficiency, Hepatorenal Glycogenosis, Hepatorenal Gorlin Syndrome, Goldscheider's Disease, Goltz Syndrome, Syndrome, Hepatorenal Tyrosinemia, Hereditary Acromela Goltz-Gorlin Syndrome, Gonadal Dysgenesis 45 X, lgia, Hereditary Alkaptonuria, Hereditary Amyloidosis, Gonadal Dysgenesis XO, Goniodysgenesis-Hypodontia, Hereditary Angioedema, Hereditary Areflexic Dystasia, Goodman Syndrome, Goodman, Goodpasture Syndrome, Heredopathia Atactica Polyneuritiformis, Hereditary Ataxia, Gordon Syndrome, Gorlin’s Syndrome, Gorlin-Chaudhry Hereditary Ataxia Friedrich's Type, Hereditary Benign Moss Syndrome, Gottron Erythrokeratodermia Congenitalis Acanthosis Nigricans, Hereditary Cerebellar Ataxia, Heredi Progressiva Symmetrica, Gottron’s Syndrome, Gougerot tary Chorea, Hereditary Chronic Progressive Chorea, Carteaud Syndrome, Grand Mal Epilepsy, Granular Type Hereditary Connective Tissue Disorders, Hereditary Copro Corneal Dystrophy, Granulomatous Arteritis, Granuloma porphyria, Hereditary Coproporphyria Porphyria, Heredi tous Colitis, Granulomatous Dermatitis with Eosinophilia, tary Cutaneous Malignant Melanoma, Hereditary Deafness Granulomatous Ileitis, Graves Disease, Graves Hyperthy Retinitis Pigmentosa, Heritable Disorder of Zinc Deficiency, roidism, Graves Disease, Greig Cephalopolysyndactyly Hereditary DNS, Hereditary Dystopic Lipidosis, Hereditary Syndrome, Groenouw Type I Corneal Dystrophy, Groenouw Emphysema, Hereditary Fructose Intolerance, Hereditary Type II Corneal Dystrophy, Gronblad-Strandberg Syn Hemorrhagic Telangiectasia, Hereditary Hemorrhagic drome, Grotton Syndrome, Growth Hormone Receptor Telangiectasia Type I, Hereditary Hemorrhagic Telangiecta Deficiency, Growth Hormone Binding Protein Deficiency, sia Type II, Hereditary Hemorrhagic Telangiectasia Type II, Growth Hormone Deficiency, Growth-Mental Deficiency Hereditary Hyperuricemia and Choreoathetosis Syndrome, Syndrome of Myhre. Growth Retardation-Rieger Anomaly, Hereditary Leptocytosis Major, Hereditary Leptocytosis GRS, Gruber Syndrome, GS, GSD6, GSD8, GTS, Gua Minor, Hereditary Lymphedema, Hereditary Lymphedema nosine Triphosphate-Cyclohydrolase Deficiency, Guanosine Tarda, Hereditary Lymphedema Type I, Hereditary Lymphe Triphosphate-Cyclohydrolase Deficiency, Guenther Porphy dema Type II, Hereditary Motor Sensory Neuropathy, ria, Guerin-Stem Syndrome, Guillain-Barré, Guillain-Barre Hereditary Motor Sensory Neuropathy I, Hereditary Motor Syndrome, Gunther Disease, H Disease, H. Gottron’s Syn Sensory Neuropathy Type III, Hereditary Nephritis, Heredi drome, H. Gottron’s Syndrome, Habit Spasms, HAE, Hage tary Nephritis and Nerve Deafness, Hereditary Nephropathic man Factor Deficiency, Hageman factor, Haim-Munk Syn Amyloidosis, Hereditary Nephropathy and Deafness, drome, Hajdu–Cheney Syndrome, Hajdu Cheney, HAL Hereditary Nonpolyposis Colorectal Cancer, Hereditary Deficiency, Hall-Pallister Syndrome, Hallermann-Streiff Nonpolyposis Colorectal Carcinoma, Hereditary Non Francois syndrome, Hallermann-Streiff Syndrome, Haller spherocytic Hemolytic Anemia, Hereditary Onychoosteod Vorden-Spatz Disease, Hallervorden-Spatz Syndrome, Hal ysplasia, Hereditary Optic Neuroretinopathy, Hereditary lopeau-Siemens Disease, Hallux Duplication Postaxial Polyposis Coli, Hereditary Sensory and Autonomic Neur Polydactyly and Absence of Corpus Callosum, Halushi opathy Type I, Hereditary Sensory and Autonomic Neur Behcet’s Syndrome, Hamartoma of the Lymphatics, Hand opathy Type II, Hereditary Sensory and Autonomic Neur Schueller-Christian Syndrome, HANE, Hanhart Syndrome, opathy Type III, Hereditary Sensory Motor Neuropathy, Happy Puppet Syndrome, Harada Syndrome, HARD +/-E Hereditary Sensory Neuropathy Type I, Hereditary Sensory Syndrome, HARD Syndrome, Hare Lip, Harlequin Fetus, Neuropathy Type II, Hereditary Sensory Neuropathy Type Harlequin Type DOC 6, Harlequin Type Ichthyosis, Harley III, Hereditary Sensory Radicular Neuropathy Type I, Syndrome, Harrington Syndrome, Hart Syndrome, Hartnup Hereditary Sensory Radicular Neuropathy Type II, Heredi US 2007/01 35335 A1 Jun. 14, 2007 52 tary Site Specific Cancer, Hereditary Spherocytic Hemolytic E-Recurrent Infection Syndrome, Hyperimmunoglobuline Anemia, Hereditary Spherocytosis, Hereditary Tyrosinemia mia E-Staphylococcal, Hyperkalemia, Hyperkinetic Syn Type 1, Heritable Connective Tissue Disorders, Herlitz drome, Hyperlipemic Retinitis, Hyperlipidemia I, Hyperlipi Syndrome, Hermans-Herzberg Phakomatosis, Hermansky demia IV, Hyperlipoproteinemia Type I. Pudlak Syndrome, Hermansky-Pudlak Syndrome, Her Hyperlipoproteinemia Type III, Hyperlipoproteinemia Type maphroditism, Herpes Zoster, Herpes Iris Stevens-Johnson IV. Hyperoxaluria, Hyperphalangy-Clinodactyly of Index Type, Hers Disease, Heterozygous Beta Thalassemia, Finger with Pierre Robin Syndrome, Hyperphenylalanemia, Hexoaminidase Alpha-Subunit Deficiency (Variant B). Hyperplastic Epidermolysis Bullosa, Hyperpnea, Hyperpo Hexoaminidase Alpha-Subunit Deficiency (Variant B). tassemia, Hyperprebeta-Lipoproteinemia, Hyperprolinemia HFA, HFM, HGPS, HH, HHHO, HHRH, HHT, Hiatal Type I, Hyperprolinemia Type II, Hypersplenism, Hyperte Hernia-Microcephaly-Nephrosis Galloway Type, Hidrad lorism with Esophageal Abnormalities and Hypospadias, enitis Suppurativa, Hidrosadenitis Axillaris, Hidrosadenitis Hypertelorism-Hypospadias Syndrome, Hypertrophic Car Suppurativa, Hidrotic Ectodermal Dysplasias, HIE Syn dio myopathy, Hypertrophic Interstitial Neuropathy, Hyper drome, High Imperforate Anus, High Potassium, High trophic Interstitial Neuritis, Hypertrophic Interstitial Scapula, HIM, Hirschsprung's Disease, Hirschsprung's Dis Radiculoneuropathy, Hypertrophic Neuropathy of Refsum, ease Acquired, Hirschsprung Disease Polydactyly of Ulnar Hypertrophic Obstructive Cardiomyopathy, Hyperuricemia & Big Toe and VSD, Hirschsprung Disease with Type D Choreoathetosis Self-multilation Syndrome, Hyperurice Brachydactyly, Hirsutism, HIS Deficiency. Histidine mia-Oligophrenia, Hypervalinemia, Hypocalcified (Hypom Ammonia-Lyase (HAL) Deficiency. Histidase Deficiency, ineralized) Type, Hypochondrogenesis, Hypochrondropla Histidinemia, Histidinemia, Histiocytosis. Histiocytosis X. sia, Hypogammaglobulinemia, Hypogammaglobulinemia HLHS, HLP Type II, HMG, HMI, HMSN I, HNHA, Transient of Infancy, Hypogenital Dystrophy with Diabetic HOCM, Hodgkin Disease, Hodgkin’s Disease, Hodgkin’s Tendency, Hypoglossia-Hypodactylia Syndrome, Hypogly Lymphoma, Hollaender-Simons Disease, Holmes-Adie Syn cemia, Hypoglycemia, Exogenous Hypoglycemia, Hypogly drome, Holocarboxylase Synthetase Deficiency, Holo cemia with Macroglossia, Hypoglycosylation Syndrome prosencephaly, Holoprosencephaly Malformation Complex, Type 1a, Hypoglycosylation Syndrome Type 1a, Hypogo Holoprosencephaly Sequence, Holt-Oram Syndrome, Holt nadism with Anosmia, Hypogonadotropic Hypogonadism Oram Type Heart-Hand Syndrome, Homocystinemia, and Anosmia, Hypohidrotic Ectodermal Dysplasia, Hypo Homocystinuria, Homocystinuria, Homogentisic Acid Oxi hidrotic Ectodermal Dysplasia Autosomal Dominant type, dase Deficiency, Homogentisic Acidura, Homozygous Hypohidrotic Ectodermal Dysplasias Autorecessive, Alpha-1-Antitrypsin Deficiency, HOOD, Horner Syndrome, Hypokalemia, Hypokalemic Alkalosis with Hypercalciuria, Horton's disease, HOS, HOS1, Houston-Harris Type Ach Hypokalemic Syndrome, Hypolactasia, Hypomaturation rondrogenesis (Type IA), HPS, HRS, HS, HSAN Type I, Type (Snow-Capped Teeth), Hypomelanosis of Ito, HSAN Type II, HSAN-III, HSMN, HSMN Type III, HSN I, Hypomelia-Hypotrichosis-Facial Hemangioma Syndrome, HSN-III, Huebner-Herter Disease, Hunner's Patch, Hun Hypomyelination Neuropathy, Hypoparathyroidism, Hypo ner's Ulcer, Hunter Syndrome, Hunter Syndrome, Hunter phosphatasia, Hypophosphatemic Rickets with Hypercalce Thompson Type Acromesomelic Dysplasia, Huntington's mia, Hypopigmentation, Hypopigmentation, Hypopig Chorea, Huntington's Disease, Hurler Disease, Hurler Dis mented macular lesion, Hypoplasia of the Depressor Anguli ease, Hurler Syndrome, Hurler-Scheie Syndrome, HUS, Oris Muscle with Cardiac Defects, Hypoplastic Anemia, Hutchinson-Gilford Progeria Syndrome, Hutchinson-Gil Hypoplastic Congenital Anemia, Hypoplastic Chondrodys ford Syndrome, Hutchinson-Weber-Peutz Syndrome, Hut trophy, Hypoplastic Enamel-Onycholysis-Hypohidrosis, terite Syndrome Bowen-Conradi Type, Hyaline Panneuropa Hypoplastic (Hypoplastic-Explastic) Type, Hypoplastic Left thy, Hydranencephaly, Hydrocephalus, Hydrocephalus Heart Syndrome, Hypoplastic Left Heart Syndrome, Hypo Agyria and Retinal Dysplasia, Hydrocephalus Internal plastic-Triphalangeal Thumbs, Hypopotassemia Syndrome, Dandy-Walker Type, Hydrocephalus Noncommunicating Hypospadias-Dysphagia Syndrome, Hyposmia, Hypotha Dandy-Walker Type, Hydrocephaly, Hydronephrosis With lamic Hamartoblastoma Hypopituitarism Imperforate Anus Peculiar Facial Expression, Hydroxylase Deficiency, Polydactyly, Hypothalamic Infantilism-Obesity, Hypothy Hygroma Coli, Hyper-IgE Syndrome, Hyper IgM Syn roidism, Hypotonia-Hypomentia-Hypogonadism-Obesity drome, Hyperaldosteronism, Hyperaldosteronism With Syndrome, Hypoxanthine-Guanine Phosphoribosyltran Hypokalemic Alkatosis, Hyperaldosteronism Without ferase Defect (Complete Absense of), I-Cell Disease, Iatro Hypertension, Hyperammonemia, Hyperammonemia Due genic Hypoglycemia, IBGC, IBIDS Syndrome, IBM, IBS, to Carbamylphosphate Synthetase Deficiency, Hyperam IC, I-Cell Disease, ICD, ICE Syndrome Cogan-Reese Type, monemia Due to Ornithine Transcarbamylase Deficiency, Icelandic Type Amyloidosis (Type VI), I-Cell Disease, Ich Hyperammonemia Type II, Hyper-Beta Carnosinemia, thyosiform Erythroderma Corneal Involvement and Deaf Hyperbilirubinemia I, Hyperbilirubinemia II, Hypercalce ness, Ichthyosiform Erythroderma Hair Abnormality mia Familial with Nephrocalcinosis and Indicanuria, Hyper Growth and Men, Ichthyosiform Erythroderma with Leuko calcemia-Supravalvar Aortic Stenosis, Hypercalciuric Rick cyte Vacuolation, Ichthyosis, Ichthyosis Congenita, Ichthyo ets, Hypercapnic acidosis, Hypercatabolic Protein-Losing sis Congenital with Trichothiodystrophy, Ichthyosis Hystrix, Enteropathy, Hyperchloremic acidosis, Hypercholester Ichthyosis Hystrix Gravior, Ichthyosis Linearis Circum olemia, Hypercholesterolemia Type IV. Hyperchylomicron flexa, Ichthyosis Simplex, Ichthyosis Tay Syndrome, Ich emia, Hypercystinuria, Hyperekplexia, Hyperextensible thyosis Vulgaris, Ichthyosis Vulgaris, Ichthyotic Neutral joints, Hyperglobulinemic Purpura, Hyperglycinemia with Lipid Storage Disease, Icteric Leptospirosis, Icterohemor Ketoacidosis and Lactic Acidosis Propionic Type, Hyperg rhagic Leptospirosis, Icterus (Chronic Familial), Icterus lycinemia Nonketotic, Hypergonadotropic Hypogonadism, Gravis Neonatorum, Icterus Intermittens Juvenalis, Idio Hyperimmunoglobulin E Syndrome, Hyperimmunoglobulin pathic Alveolar Hypoventilation, Idiopathic Amyloidosis, US 2007/01 35335 A1 Jun. 14, 2007

Idiopathic Arteritis of Takayasu, Idiopathic Basal Ganglia vate Dehydrogenase Deficiency, Intermittent Ataxia with Calcification (IBGC), Idiopathic Brachial Plexus Neuropa Pyruvate Dehydrogenase Deficiency, Intermittent Maple thy, Idiopathic Cervical Dystonia, Idiopathic Dilatation of Syrup Urine Disease, Internal Hydrocephalus, Interstitial the Pulmonary Artery, Idiopathic Dilatation of the Pulmo Cystitis, Interstitial Deletion of 4q Included, Interstitial nary Artery, Idiopathic Facial Palsy, Idiopathic Familial Deletion of 4q-Included, Intestinal Lipodystrophy, Intestinal Hyperlipemia, Idiopathic Hypertrophic Subaortic Stenosis, Lipophagic Granulomatosis, Intestinal Lymphangiectasia, Idiopathic Hypoproteinemia, Idiopathic Immunoglobulin Intestinal Polyposis I, Intestinal Polyposis II, Intestinal Deficiency, Idiopathic Neonatal Hepatitis, Idiopathic Non Polyposis II, Intestinal Polyposis III, Intestinal Polyposis Specific Ulcerative Colitis, Idiopathic Non-Specific Ulcer Cutaneous Pigmentation Syndrome, Intestinal Polyposis ative Colitis, Idiopathic Peripheral Periphlebitis, Idiopathic Cutaneous Pigmentation Syndrome, Intestinal Pseudoob Pulmonary Fibrosis, Idiopathic Refractory Sideroblastic struction with External Ophthalmoplegia, Intracranial Anemia, Idiopathic Refractory Sideroblastic Anemia, Idio Neoplasm, Intracranial Tumors, Intracranial Vascular Mal pathic Renal Hematuria, Idiopathic Steatorrhea, Idiopathic formations, Intrauterine Dwarfism, Intrauterine Synechiae, Thrombocythemia, Idiopathic Thrombocytopenic Purpura, Inverted Smile And Occult Neuropathic Bladder, Iowa Type Idiopathic Thrombocytopenia Purpura (ITP), IDPA, IgA Amyloidosis (Type IV), IP, IPA, Iridocorneal Endothelial Nephropathy, IgA Nephropathy, IHSS, Ileitis, Ileocolitis, Syndrome, Iridocorneal Endothelial (ICE) Syndrome Illinois Type Amyloidosis, ILS, IM, IMD2, IMD5, IMD5, Cogan-Resse Type, Iridogoniodysgenesis With Somatic Immune Defect due to Absence of Thymus, Immune Anomalies, Iris Atrophy with Corneal Edema and Glau Hemolytic Anemia Paroxysmal Cold, Immunodeficiency coma, Iris Nevus Syndrome, Iron Overload Anemia, Iron with Ataxia Telangiectasia, Immunodeficiency Cellular with Overload Disease, Irritable Bowel Syndrome, Irritable Abnormal Immunoglobulin Synthesis, Immunodeficiency Colon Syndrome, Isaacs Syndrome, Isaacs-Merten Syn Common Variable Unclassifiable, Immunodeficiency with drome, Ischemic Cardio myopathy, Isolated Lissencephaly Hyper-IgM, Immunodeficiency with Leukopenia, Immuno Sequence, Isoleucine 33 Amyloidosis, Isovaleric Acid CoA deficiency-2, Immunodeficiency-5 (IMD5). Immunoglobu Dehydrogenase Deficiency, Isovaleric Acidaemia, Isovaleri lin Deficiency, Imperforate Anus, Imperforate Anus with cacidemia, Isovaleryl CoA Carboxylase Deficiency, ITO Hand Foot and Ear Anomalies, Imperforate Nasolacrimal Hypomelanosis, ITO, ITP, IVA, Ivemark Syndrome, Iwanoff Duct and Premature Aging Syndrome, Impotent Neutrophil Cysts, Jackknife Convulsion, Jackson-Weiss Craniosynos Syndrome, Inability To Open Mouth Completely And Short tosis, Jackson-Weiss Syndrome, Jacksonian Epilepsy, Jacob Finger-Flexor, INAD, Inborn Error of Urea Synthesis Argi sen Syndrome, Jadassohn-Lewandowsky Syndrome, Jaffe nase Type, Inborn Error of Urea Synthesis Arginino Succinic Lichenstein Disease, Jakob's Disease, Jakob-Creutzfeldt Type, Inborn Errors of Urea Synthesis Carbamyl Phosphate Disease, Janeway I, Janeway Dysgammaglobulinemia, Jan Type, Inborn Error of Urea Synthesis Citrullinemia Type, sen Metaphyseal Dysostosis, Jansen Type Metaphyseal Inborn Errors of Urea Synthesis Glutamate Synthetase Type, Chondrodysplasia, Jarcho-Levin Syndrome, Jaw-Winking, INCL, Inclusion body myositis, Incomplete Atrioventricular JBS, JDMS, Jegher's Syndrome, Jegher's Syndrome, Jeju Septal Defect, Incomplete Testicular Feminization, Incom nal Atresia, Jeunitis, Jejunoileitis, Jervell and Lange plete Testicular Feminization, Incontinentia Pigmenti, Nielsen Syndrome, Jeune Syndrome, JMS, Job Syndrome, Incontinentia Pigmenti, Incontinenti Pigmenti Achromians, Job-Buckley Syndrome, Johanson-Blizzard Syndrome, John Index Finger Anomaly with Pierre Robin Syndrome, Indiana Dalton, Johnson-Stevens Disease, Jonston's Alopecia, Type Amyloidosis (Type II), Indolent systemic mastocyto Joseph’s Disease, Joseph's Disease Type I, Joseph's Disease sis, Infantile Acquired Aphasia, Infantile Autosomal Reces Type II, Joseph’s Disease Type III, Joubert Syndrome, sive Polycystic Kidney Disease, Infantile Beriberi, Infantile Joubert-Bolthauser Syndrome, JRA, Juberg Hayward Syn Cerebral Ganglioside. Infantile Cerebral Ganglioside. Infan drome, Juberg-Marsidi Syndrome, Juberg-Marsidi Mental tile Cerebral Paralysis, Infantile Cystinosis, Infantile Epi Retardation Syndrome, Jumping Frenchmen, Jumping leptic, Infantile Fanconi Syndrome with Cystinosis, Infantile Frenchmen of Maine, Juvenile Arthritis, Juvenile Arthritis, Finnish Type Neuronal Ceroid Lipofuscinosis, Infantile Juvenile Autosomal Recessive Polycystic Kidney Disease, Gaucher Disease, Infantile Hypoglycemia, Infantile Juvenile Cystinosis, Juvenile (Childhood) Dermatomyositis Hypophasphatasia, Infantile Lobar Emphysema, Infantile (JDMS), Juvenile Diabetes, Juvenile Gaucher Disease, Juve Myoclonic Encephalopathy, Infantile Myoclonic Encephal nile Gout Choreoathetosis and Mental Retardation Syn opathy and Polymyoclonia, Infantile Myofibromatosis, drome, Juvenile Intestinal Malabsorption of Vit B12, Juve Infantile Necrotizing Encephalopathy, Infantile Neuronal nile Intestinal Malabsorption of Vitamin B12, Juvenile Ceroid Lipofuscinosis, Infantile Neuroaxonal Dystrophy, Macular Degeneration, Juvenile Pernicious Anemia, Juve Infantile Onset Schindler Disease, Infantile Phytanic Acid nile Retinoschisis, Juvenile Rheumatoid Arthritis, Juvenile Storage Disease, Infantile Refsum Disease (IRD), Infantile Rheumatoid Arthritis, Juvenile Spinal Muscular Atrophy Sipoidosis GM-2 Gangliosideosis (Type S), Infantile Sipoi Included, Juvenile Spinal Muscular Atrophy ALS Included, dosis GM-2 Gangliosideosis (Type S, Infantile Sleep Apnea, Juvenile Spinal Muscular Atrophy Type III, Juxta-Articular Infantile Spasms, Infantile Spinal Muscular Atrophy (all Adiposis Dolorosa, Juxta-Articular Adiposis Dolorosa, types), Infantile Spinal Muscular Atrophy ALS, Infantile Juxtaglomerular Hyperplasia, Kabuki Make-Up Syndrome, Spinal Muscular Atrophy Type I, Infantile Type Neuronal Kahler Disease, Kallmann Syndrome, Kanner Syndrome, Ceroid Lipofuscinosis, Infectious Jaundice, Inflammatory Kanzaki Disease, Kaposi Disease (not Kaposi Sarcoma), Breast Cancer, Inflammatory Linear Nevus Sebaceous Syn Kappa Light Chain Deficiency, Karsch-Neugebauer Syn drome. Iniencephaly, Insulin Resistant Acanthosis Nigri drome, Karsch-Neugebauer Syndrome, Kartagener Syn cans, Insulin Lipodystrophy, Insulin dependent Diabetes, drome-Chronic Sinobronchial Disease and Dextrocardia, Intention Myoclonus, Intermediate Cystinosis, Intermediate Kartagener Triad, Kasabach-Merritt Syndrome, Kast Syn Maple Syrup Urine Disease, Intermittent Ataxia with Pyru drome, Kawasaki Disease, Kawasaki Syndrome, KBG Syn US 2007/01 35335 A1 Jun. 14, 2007 54 drome, KD, Kearns-Sayre Disease, Kearns-Sayre Syn Late-Onset Immunoglobulin Deficiency, Late Onset Peliza drome, Kearns-Sayre Syndrome, Kennedy Disease, eus-Merzbacher Brain Sclerosis, Lattice Corneal Dystrophy, Kennedy Syndrome, Kennedy Type Spinal and Bulbar Mus Lattice Dystrophy, Launois-Bensaude, Launois-Cleret Syn cular Atrophy, Kennedy-Stefanis Disease, Kenny Disease, drome, Laurence Syndrome, Laurence-Moon Syndrome, Kenny Syndrome, Kenny Type Tubular Stenosis, Kenny Laurence-Moon/Bardet-Biedl, Lawrence-Seip Syndrome, Caffe Syndrome, Kera. Palmoplant. Con. Pes Planus Ony. LCA, LCAD Deficiency, LCAD, LCADH Deficiency, LCH, Periodon. Arach. Keratitis Ichthyosis Deafness Syndrome, LCHAD, LCPD, Le Jeune Syndrome, Leband Syndrome, Keratoconus, Keratoconus Posticus Circumscriptus, Kera Leber's Amaurosis, Leber's Congenital Amaurosis, Con tolysis, Keratolysis Exfoliativa Congenita, Keratolytic Win genital Absence of the Rods and Cones, Leber's Congenital ter Erythema, Keratomalacia, Keratosis Follicularis, Kera Tapetoretinal Degeneration, Leber's Congenital Tapetoreti tosis Follicularis Spinulosa Decalvans, Keratosis nal Dysplasia, Leber's Disease, Leber's Optic Atrophy, Follicularis Spinulosa Decalvans Ichthyosis, Keratosis Nig Leber's Optic Neuropathy, Left Ventricular Fibrosis, Leg ricans, Keratosis Palmoplantaris with Periodontopathia and Ulcer, Legg-Calve-Perthes Disease, Leigh's Disease, Onychogryposis, Keratosis Palmoplantaris Congenital Pes Leigh's Syndrome, Leigh's Syndrome (Subacute Necrotiz Planus Onychogryposis Periodontosis Arachnodactyly, ing Encephalomyelopathy), Leigh Necrotizing Encephal Keratosis Palmoplantaris Congenital, Pes Planus, Ony opathy, Lennox-Gastaut Syndrome, Lentigio-Polypose-Di chogryphosis, Periodontosis, Arachnodactyly, Acroosteoly gestive Syndrome, Lentigio-Polypose-Digestive Syndrome, sis, Keratosis Rubra Figurata, Keratosis Seborrheica, Lenz, Dysmorphogenetic Syndrome, Lenz, Dysplasia, Lenz Ketoacid Decarboxylase Deficiency, Ketoaciduria, Ketotic Microphthalmia Syndrome, Lenz, Syndrome, LEOPARD Glycinemia, Ketotic Glycinemia, KFS, KID Syndrome, Syndrome, Leprechaunism, Leprechaunism, Leptom Kidney Agenesis, Kidneys Cystic-Retinal Aplasia Joubert eningeal Angiomatosis, Leptospiral Jaundice, Leri-Weill Syndrome, Killian Syndrome, Killian/Teschler-Nicola Syn Disease, Leri-Weil Dyschondrosteosis, Leri-Weil Syn drome, Kiloh-Nevin syndrome III, Kinky Hair Disease, drome, LermoyeZ Syndrome, Leroy Disease, Lesch Nyhan Kinsbourne Syndrome, Kleeblattschadel Deformity, Kleine Syndrome, Lethal Infantile Cardio myopathy, Lethal Neo Levin Syndrome, Kleine-Levin Hibernation Syndrome, natal Dwarfism, Lethal Osteochondrodysplasia, Letterer Klinefelter, Klippel-Feil Syndrome, Klippel-Feil Syndrome Siwe Disease, Leukocytic Anomaly Albinism, Leukocytic Type I, Klippel-Feil Syndrome Type II, Klippel-Feil Syn Inclusions with Platelet Abnormality, Leukodystrophy, Leu drome Type III, Klippel Trenaunay Syndrome, Klippel kodystrophy with Rosenthal Fibers, Leukoencephalitis Peri Trenaunay-Weber Syndrome, Kluver-Bucy Syndrome, axialis Concentric, Levine-Critchley Syndrome, Levulo KMS, Kniest Dysplasia, Kniest Syndrome, Kobner's Dis suria, Levy-Hollister Syndrome, LGMD, LGS, LHON, LIC, ease, Koebberling-Dunnigan Syndrome, Kohlmeier-Degos Lichen Ruber Acuminatus, Lichen Acuminatus, Lichen Disease, Kok Disease, Korsakoff Psychosis, Korsakoffs Amyloidosis, Lichen Planus, Lichen Psoriasis, Lignac-De Syndrome, Krabbe's Disease Included, Krabbe's Leukod bre-Fanconi Syndrome, Lignac-Fanconi Syndrome, Ligne ystrophy, Kramer Syndrome, KSS, KTS, KTW Syndrome, ous Conjunctivitis, Limb-Girdle Muscular Dystrophy, Limb Kufs Disease, Kugelberg-Welander Disease, Kugelberg-We Girdle Muscular Dystrophy, Limb Malformations-Dento lander Disease, Kugelberg-Welander Syndrome, Kugelberg Digital Syndrome, Limit Dextrinosis, Linear Nevoid Hyper Welander Syndrome, Kussmaul-Landry Paralysis, KWS, melanosis, Linear Nevus Sebacous Syndrome, Linear Scle L-3-Hydroxy-Acyl-CoA Dehydrogenase (LCHAD) Defi roderma, Linear Sebaceous Nevus Sequence, Linear ciency, Laband Syndrome, Labhart-Willi Syndrome, Laby Sebaceous Nevus Syndrome, Lingua Fissurata, Lingua Pli rinthine Syndrome, Labyrinthine Hydrops, Lacrimo-Au cata, Lingua Scrotalis, Linguofacial Dyskinesia, Lip riculo-Dento-Digital Syndrome, Lactase Isolated Pseudocleft-hemangiomatous Branchial Cyst Syndrome, Intolerance, Lactase Deficiency, Lactation-Uterus Atrophy, Lipid Granulomatosis, Lipid Histiocytosis, Lipid Kerasin Lactic Acidosis Leber Hereditary Optic Neuropathy, Lactic Type, Lipid Storage Disease, Lipid-Storage myopathy Asso and Pyruvate Acidemia with Carbohydrate Sensitivity, Lac ciated with SCAD Deficiency, Lipidosis Ganglioside Infan tic and Pyruvate Acidemia with Episodic Ataxia and Weak tile, Lipidosis Ganglioside Infantile, Lipoatrophic Diabetes ness, Lactic and Pyruvate Acidemia with Carbohydrate Mellitus, Lipodystrophy, Lipoid Corneal Dystrophy, Lipoid Sensitivity, Lactic and Pyruvate, Lactic acidosis, Lactose Hyperplasia-Male Pseudohermaphroditism, Lipoid Hyper Intolerance of Adulthood, Lactose Intolerance, Lactose plasia-Male Pseudohermaphroditism, Lipomatosis of Pan Intolerance of Childhood, Lactose Intolerance, LADD Syn creas Congenital, Lipomucopolysaccharidosis Type I, Lipo drome, LADD, Lafora Disease Included, Lafora Body Dis myelomeningocele, Lipoprotein Lipase Deficiency Familial, ease, Laki-Lorand Factor Deficiency, LAM, Lambert Type LIS, LIS1, Lissencephaly 1, Lissencephaly Type I, Lissen Ichthyosis, Lambert-Eaton Syndrome, Lambert-Eaton cephaly variants with agenesis of the corpus callosum cer Myasthenic Syndrome, Lamellar Recessive Ichthyosis, ebellar hypoplasia or other anomalies, Little Disease, Liver Lancereaux-Mathieu-Weil Spirochetosis, Landau-Kleffner Phosphorylase Deficiency, LKS, LM Syndrome, Lobar Syndrome, Landouzy Deerine Muscular Dystrophy, Landry Atrophy, Lobar Atrophy of the Brain, Lobar Holoprosen Ascending Paralysis, Langer-Salidino Type Achondrogensis cephaly, Lobar Tension Emphysema in Infancy, Lobstein (Type II), Langer Giedion Syndrome, Langerhans-Cell Disease (Type I), Lobster Claw Deformity, Lobster Claw Granulomatosis, Langerhans-Cell Histiocytosis (LCH), Deformity, Localized Epidermolysis Bullosa, Localized Large Atrial and Ventricular Defect, Laron Dwarfism, Laron Lipodystrophy, Localized Neuritis of the Shoulder Girdle, Type Pituitary Dwarfism, Larsen Syndrome, Laryngeal Dys Loeffler's Disease, Loeffler Endomyocardial Fibrosis with tonia, Latah (Observed in Malaysia), Late Infantile Neu Eosinophilia, Loeffler Fibroplastic Parietal Endocarditis, roaxonal Dystrophy, Late Infantile Neuroaxonal Dystrophy, Loken Syndrome, Loken-Senior Syndrome, Long-Chain Late Onset Cockayne Syndrome Type III (Type C). Late 3-hydroxyacyl-CoA Dehydrogenase (LCHAD), Long Chain Onset Dystonia, Late-Onset Immunoglobulin Deficiency, Acyl CoA Dehydrogenase Deficiency, Long-Chain Acyl US 2007/01 35335 A1 Jun. 14, 2007

CoA Dehydrogenase (ACADL), Long-Chain Acyl-CoA drome, Massive Myoclonia, Mast Cell Leukemia, Mastocy Dehydrogenase Deficiency, Long QT Syndrome without tosis, Mastocytosis With an Associated Hematologic Disor Deafness, Lou Gehrig's Disease, Lou Gehrig's Disease der, Maumenee Corneal Dystrophy, Maxillary Included, Louis-Bar Syndrome, Low Blood Sugar, Low Ameloblastoma, Maxillofacial Dysostosis, Maxillonasal Density Beta Lipoprotein Deficiency, Low Imperforate Dysplasia, Maxillonasal Dysplasia Binder Type, Maxillo Anus, Low Potassium Syndrome, Lowe's Syndrome, Lowe palpebral Synkinesis, May-Hegglin Anomaly, MCAD Defi Bickel Syndrome, Lowe-Terry-MacLachlan Syndrome, LS, ciency, MCAD, McArdle Disease, McCune-Albright, MCD, LTD, Lubs Syndrome, Luft Disease, Lumbar Canal Steno McKusick Type Metaphyseal Chondrodysplasia, McKusick sis, Lumbar Spinal Stenosis, Lumbosacral Spinal Stenosis, Type Metaphyseal Chondrodysplasia, MCR, MCTD, Lundborg-Unverricht Disease, Lundborg-Unverricht Dis Meckel Syndrome, Meckel-Gruber Syndrome, Median Cleft ease Included, Lupus, Lupus Erythematosus, Luschka-Ma Face Syndrome, Mediterranean Anemia, Medium-Chain gendie Foramina Atresia, Lyell Syndrome, Lyelles Syn Acyl-CoA dehydrogenase (ACADM), Medium Chain Acyl drome, Lymphadenoid Goiter, Lymphangiectatic Protein CoA Dehydrogenase (MCAD) Deficiency, Medium-Chain Losing Enteropathy, Lymphangioleiomatosis, Acyl-CoA Dehydrogenase Deficiency, Medium Chain Acyl Lymphangioleimyomatosis, Lymphangiomas, Lymphatic CoA Dehydrogenase Deficiency, Medullary Cystic Disease, Malformations, Lynch Syndromes, Lynch Syndrome I, Medullary Cystic Disease, Medullary Sponge Kidney, MEF, Lynch Syndrome II, Lysosomal Alpha-N-Acetylgalac Megaesophagus, Megalencephaly, Megalencephaly with tosaminidase Deficiency Schindler Type, Lysosomal Gly Hyaline Inclusion, Megalencephaly with Hyaline Panneur coaminoacid Storage Disease-Angiokeratoma Corporis Dif opathy, Megaloblastic Anemia, Megaloblastic Anemia of fusum, Lysosomal Glucosidase Deficiency, Lysosomal Pregnancy, Megalocornea-Mental Retardation Syndrome, Glucosidase Deficiency, MAA, Machado Disease, Meier-Gorlin Syndrome, Meige's Lymphedema, Meige's Machado-Joseph Disease, Macrencephaly, Macrocephaly, Syndrome, Melanodermic Leukodystrophy, Melanoplakia Macrocephaly Hemihypertrophy, Macrocephaly with Mul Intestinal Polyposis, Melanoplakia-Intestinal Polyposis, tiple Lipomas and Hemangiomata, Macrocephaly with MELAS Syndrome, MELAS, Melkersson Syndrome, Pseudopapilledema and Multiple Hemangiomata, Macro Melnick-Fraser Syndrome, Melnick-Needles Osteodys globulinemia, Macroglossia, Macroglossia-Omphalocele plasty, Melnick-Needles Syndrome, Membranous Lipodys Visceromegaly Syndrome, Macrostomia Ablepheron Syn trophy, Mendes Da Costa Syndrome, Méniere's Disease, drome, Macrothrombocytopenia Familial Bernard-Soulier Meningeal Capillary Angiomatosis, Menkes Disease, Men Type, Macula Lutea degeneration, Macular Amyloidosis, ke's Syndrome I, Mental Retardation Aphasia Shuffling Gait Macular Degeneration, Macular Degeneration Disciform, Adducted Thumbs (MASA), Mental Retardation-Deafness Macular Degeneration Senile, Macular Dystrophy, Macular Skeletal Abnormalities-Coarse Face with Full Lips, Mental Type Corneal Dystrophy, MAD, Madelung’s Disease, Maf Retardation with Hypoplastic 5th Fingernails and Toenails, fucci Syndrome, Major Epilepsy, Malabsorption, Malab Mental Retardation with Osteocartilaginous Abnormalities, Sorption-Ectodermal Dysplasia-Nasal Alar Hypoplasia, Mental Retradation-X-linked with Growth Delay-Deafness Maladie de Roger, Maladie de Tics, Male Malformation of Microgenitalism, Menzel Type OPCA, Mermaid Syndrome, Limbs and Kidneys, Male Turner Syndrome, Malignant MERRF, MERRF Syndrome, Merten-Singleton Syndrome, Acanthosis, Malignant Acanthosis Nigricans, Malignant MES, Mesangial IGA Nephropathy, Mesenteric Lipodystro Astrocytoma, Malignant Atrophic Papulosis, Malignant phy, Mesiodens-Cataract Syndrome, Mesodermal Dysmor Fever, Malignant Hyperphenylalaninemia, Malignant phodystrophy, Mesomelic Dwarfism-Madelung Deformity, Hyperpyrexia, Malignant Hyperthermia, Malignant Mela Metabolic Acidosis, Metachromatic Leukodystrophy, Meta noma, Malignant Tumors of the Central Nervous System, tarsus Varus, Metatropic Dwarfism Syndrome, Metatropic Mallory-Weiss Laceration, Mallory-Weiss Tear, Mallory Dysplasia, Metatropic Dysplasia I, Metatropic Dysplasia II, Weiss Syndrome, Mammary Paget’s Disease, Mandibular Methylmalonic Acidemia, Methylmalonic Aciduria, Meu Ameloblastoma, Mandibulofacial Dysostosis, Mannosido lengracht's Disease, MFD1, MG, MH, MHA, Micrenceph sis, Map-Dot-Fingerprint Type Corneal Dystrophy, Maple aly, Microcephalic Primordial Dwarfism I, Microcephaly, Syrup Urine Disease, Marble Bones, Marchiafava-Micheli Microcephaly-Hiatal Hernia-Nephrosis Galloway Type, Syndrome, Marcus Gunn Jaw-Winking Syndrome, Marcus Microcephaly-Hiatal Hernia-Nephrotic Syndrome, Micro Gunn Phenomenon, Marcus Gunn Ptosis with jaw-winking, cystic Corneal Dystrophy, Microcythemia, Microlissen Marcus Gunn Syndrome, Marcus Gunn (Jaw-Winking) Syn cephaly, Microphthalmia, Microphthalmia, Microphthalmia drome, Marcus Gunn Ptosis (with jaw-winking), Marden or Anophthalmos with Associated Anomalies, Micropolygy Walker Syndrome, Marden-Walker Type Connective Tissue ria With Muscular Dystrophy, Microtia Absent Patellae Disorder, Marfan's Abiotrophy, Marfan-Achard syndrome, Micrognathia Syndrome, Microvillus Inclusion Disease, Marfan Syndrome, Marfan's Syndrome I, Marfan's Variant, MID, Midsystolic-click-late systolic murmur syndrome, Marfan-Achard syndrome, Marfanoid Hypermobility Syn Miescher's Type I Syndrome, Mikulicz. Syndrome, Miku drome, Marginal Corneal Dystrophy, Marie’s Ataxia, Marie licz-Radecki Syndrome, Mikulicz-Sjogren Syndrome, Mild Disease, Marie-Sainton Disease, Marie Strumpell Disease, Autosomal Recessive, Mild Intermediate Maple Syrup Marie-Strumpell Spondylitis, Marinesco-Sjogren Syn Urine Disease, Mild Maple Syrup Urine Disease, Miller drome, Marinesco-Sjogren-Gorland Syndrome, Marker X Syndrome, Miller-Dieker Syndrome, Miller-Fisher Syn Syndrome, Maroteaux Lamy Syndrome, Maroteaux Type drome, Milroy Disease, Minkowski-Chauffard Syndrome, Acromesomelic Dysplasia, Marshall's Ectodermal Dyspla Minor Epilepsy, Minot-Von Willebrand Disease, Mirror sias With Ocular and Hearing Defects, Marshall-Smith Syn Image Dextrocardia, Mitochondrial Beta-Oxidation Disor drome, Marshall Syndrome, Marshall Type Deafness-Myo ders, Mitrochondrial and Cytosolic, Mitochondrial Cytopa pia-Cataract-Saddle Nose, Martin-Albright Syndrome, thy, Mitochondrial Cytopathy, Kearn-Sayre Type, Martin-Bell Syndrome, Martorell Syndrome, MASA Syn Mitochondrial Encephalopathy, Mitochondrial Encephalo US 2007/01 35335 A1 Jun. 14, 2007 56 myopathy Lactic Acidosis and Strokelike Episodes, Mito Multiple Pterygium Syndrome, Multiple Sclerosis, Multiple chondrial myopathy, Mitochondrial myopathy Encephalopa Sulfatase Deficiency, Multiple Symmetric Lipomatosis, thy Lactic Acidosis Stroke-Like Episode, Mitochondrial Multiple System Atrophy, Multisynostotic Osteodysgenesis, PEPCK Deficiency, Mitral-valve prolapse, Mixed Apnea, Multisynostotic Osteodysgenesis with Long Bone Fractures, Mixed Connective Tissue Disease, Mixed Connective Tissue Mulvihill-Smith Syndrome, MURCS Association, Murk Disease, Mixed Hepatic Porphyria, Mixed Non-Fluent Jansen Type Metaphyseal Chondrodysplasia, Muscle Car Aphasia, Mixed Sleep Apnea, Mixed Tonic and Clonic nitine Deficiency, Muscle Core Disease, Muscle Phosphof Torticollis, MJD, MKS, MLI, ML II, ML II, ML m, ML IV. ructokinase Deficiency, Muscular Central Core Disease, ML Disorder Type I, ML Disorder Type II, ML Disorder Muscular Dystrophy, Muscular Dystrophy Classic X-linked Type III, ML Disorder Type IV, MLNS, MMR Syndrome, Recessive, Muscular Dystrophy Congenital With Central MND, MNGIE, MNS, Mobitz I, Mobitz II, Mobius Syn Nervous System Involvement, Muscular Dystrophy Con drome, Moebius Syndrome, Moersch-Woltmann Syndrome, genital Progressive with Mental Retardation, Muscular Dys Mohr Syndrome, Monilethrix, Monomodal Visual Amnesia, trophy Facioscapulohumeral, Muscular Rheumatism, Mus Mononeuritis Multiplex, Mononeuritis Peripheral, Monon cular Rigidity—Progressive Spasm, Musculoskeletal Pain europathym Peripheral, Monosomy 3p2, Monosomy 9p Par Syndrome, Mutilating Acropathy, Mutilating Acropathy, tial, Monosomy 11q Partial, Monosomy 13q Partial, Mono Mutism, mvp, MVP. MWS, Myasthenia Gravis, Myasthenia somy 18q Syndrome, Monosomy X, Monostotic Fibrous Gravis, Myasthenia Gravis Pseudoparalytica, Myasthenic Dysplasia, Morgagni-Turner-Albright Syndrome, Morphea, Syndrome of Lambert-Eaton, Myelinoclastic Diffuse Scle Morquio Disease, Morquio Syndrome, Morquio Syndrome rosis, Myelomatosis, Myhre Syndrome, Myoclonic Astatic A. Morquio Syndrome B. Morquio-Brailsford Syndrome, Petit Mal Epilepsy, Myoclonic Dystonia, Myoclonic Morvan Disease, Mosaic Tetrasomy 9p, Motor Neuron Dis Encephalopathy of Infants, Myoclonic Epilepsy, Myoclonic ease, Motor Neuron Syndrome, Motor Neurone Disease, Epilepsy Hartung Type, Myoclonus Epilepsy Associated Motoneuron Disease, Motoneurone Disease, Motor System with Ragged Red Fibers, Myoclonic Epilepsy and Ragged Disease (Focal and Slow), Moya-moya Disease, Moyamoya Red Fiber Disease, Myoclonic Progressive Familial Epi Disease, MPS, MPS I, MPS I H, MPS 1 H/S Hurler/Scheie lepsy, Myoclonic Progressice Familial Epilepsy, Myoclonic Syndrome, MPS IS Scheie Syndrome, MPS II, MPS IIA, Seizure, Myoclonus, Myoclonus Epilepsy, Myoencephal MPS IIB, MPS II-AR Autosomal Recessive Hunter Syn opathy Ragged-Red Fiber Disease, Myofibromatosis, Myo drome, MPS II-XR, MPS II-XR Severe Autosomal Reces fibromatosis Congenital, Myogenic Facio-Scapulo-Peroneal sive, MPS III, MPS III A B C and D Sanfiloppo A, MPS IV, Syndrome, Myoneurogastointestinal Disorder and Encepha MPS IV A and B Morquio A, MPS V, MPS VI, MPS VI lopathy, Myopathic Arthrogryposis Multiplex Congenita, Severe Intermediate Mild Maroteaux-Lamy, MPS VII, MPS Myopathic Carnitine Deficiency, myopathy Central Fibrillar, VII Sly Syndrome, MPS VIII, MPS Disorder, MPS Disorder myopathy Congenital Nonprogressive, myopathy Congeni I, MPS Disorder II, MPS Disorder III, MPS Disorder VI, tal Nonprogressive with Central Axis, myopathy with Defi MPS Disorder Type VII, MRS, MS, MSA, MSD, MSL, ciency of Carnitine Palmitoyltransferase, myopathy-Mari MSS, MSUD, MSUD Type Ib, MSUD Type II, Mucocuta nesco-Sjogren Syndrome, myopathy-Metabolic Carnitine neous Lymph Node Syndrome, Mucolipidosis I, Mucolipi Palmitoyltransderase Deficiency, myopathy Mitochondrial dosis II, Mucolipidosis III, Mucolipidosis IV. Mucopolysac Encephalopathy-Lactic Acidosis-Stroke, myopathy with charidosis, Mucopolysaccharidosis I-H, Sarcoplasmic Bodies and Intermediate Filaments, Myophos Mucopolysaccharidosis I-S, Mucopolysaccharidosis II, phorylase Deficiency, Myositis Ossificans Progressiv, Myo Mucopolysaccharidosis III, Mucopolysaccharidosis IV. tonia Atrophica, Myotonia Congenita, Myotonia Congenita Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Intermittens, Myotonic Dystrophy, Myotonic myopathy Mucopolysaccharidosis Type I. Mucopolysaccharidosis Dwarfism Chondrodystrophy Ocular and Facial Anomalies, Type II, Mucopolysaccharidosis Type III, Mucopolysaccha Myotubular myopathy, Myotubular myopathy X-linked, ridosis Type VII, Mucosis, Mucosulfatidosis, Mucous Coli My proic Acid, Myriachit (Observed in Siberia), Myxedema, tis, Mucoviscidosis, Mulibrey Dwarfism, Mulibrey Nanism N-Acetylglucosamine-1-Phosphotransferase Deficiency, Syndrome, Mullerian Duct Aplasia-Renal Aplasia-Cervico N-Acetyl Glutamate Synthetase Deficiency, NADH-CoQ thoracic Somite Dysplasia, Mullerian Duct-Renal-Cervico reductasedeficiency, Naegeli Ectodermal Dysplasias, Nager thoracic-Upper Limb Defects, Mullerian Duct and Renal Syndrome, Nager Acrofacial Dysostosis Syndrome, Nager Agenesis with Upper Limb and Rib Anomalies, Mullerian Acrofacial Dysostosis Syndrome, Nager Syndrome, NAGS Renal-Cervicothoracic Somite Abnormalities, Multi-Infarct Deficiency, Nail Dystrophy-Deafness Syndrome, Nail Dys Dementia Binswanger's Type, Multicentric Castleman's genesis and Hypodontia, Nail-Patella Syndrome, Nance Disease, Multifocal Eosinophilic Granuloma, Multiple Horan Syndrome, Nanocephalic Dwarfism, Nanocephaly, Acyl-CoA Dehydrogenase Deficiency, Multiple Acyl-CoA Nanophthalmia, Narcolepsy, Narcoleptic syndrome, NARP, Dehydrogenase Deficiency, Multiple Acyl-CoA Dehydroge Nasal-fronto-faciodysplasia, Nasal Alar Hypoplasia nase Deficiency/Glutaric Aciduria Type II, Multiple Angio Hypothyroidism Pancreatic Achylia Congenital Deafness, mas and Endochondromas, Multiple Carboxylase Defi Nasomaxillary Hypoplasia, Nasu Lipodystrophy, NBIA1, ciency, Multiple Cartilaginous Enchondroses, Multiple ND, NDI, NDP. Necrotizing Encephalomyelopathy of Cartilaginous Exostoses, Multiple Enchondromatosis, Mul Leigh's, Necrotizing Respiratory Granulomatosis, Neill tiple Endocrine Deficiency Syndrome Type II, Multiple Dingwall Syndrome, Nelson Syndrome, Nemaline myopa Epiphyseal Dysplasia, Multiple Exostoses, Multiple Exos thy, Neonatal Adrenoleukodystrophy (NALD), Neonatal toses Syndrome, Multiple Familial Polyposis, Multiple Len Adrenoleukodystrophy (ALD), Neonatal Autosomal Reces tigines Syndrome, Multiple Myeloma, Multiple Neuritis of sive Polycystic Kidney Disease, Neonatal Dwarfism, Neo the Shoulder Girdle, Multiple Osteochondromatosis, Mul natal Hepatitis, Neonatal Hypoglycemia, Neonatal Lactose tiple Peripheral Neuritis, Multiple Polyposis of the Colon, Intolerance, Neonatal Lymphedema due to Exudative Enter US 2007/01 35335 A1 Jun. 14, 2007 57 opathy, Neonatal Progeroid Syndrome, Neonatal Pseudo Syndrome, OAV Spectrum, Obstructive Apnea, Obstructive Hydrocephalic Progeroid Syndrome of Wiedemann-Rauten Hydrocephalus, Obstructive Sleep Apnea, OCC Syndrome, strauch, Neoplastic Arachnoiditis, Nephroblastom, Occlusive Thromboaortopathy, OCCS, Occult Intracranial Nephrogenic Diabetes Insipidus, Nephronophthesis Familial Vascular Malformations, Occult Spinal Dysraphism Juvenile, Nephronophthesis Familial Juvenile, Nephro Sequence, Ochoa Syndrome, Ochronosis, Ochronotic pathic Cystinosis, Nephropathy-Pseudohermaphroditism Arthritis, OCR, OCRL, Octocephaly, Ocular Albinism, Ocu Wilms Tumor, Nephrosis-Microcephaly Syndrome, Neph lar Herpes, Ocular Myasthenia Gravis, Oculo-Auriculo rosis-Neuronal Dysmigration Syndrome, Nephrotic Vertebral Dysplasia, Oculo-Auriculo-Vertebral Spectrum, Glycosuric-Dwarfism-Rickets-Hypophosphatemic Oculo-Bucco-Genital Syndrome, Oculocerebral Syndrome Syndrome, Netherton Disease, Netherton Syndrome, Neth with Hypopigmentation, Oculocerebrocutaneous Syndrome, erton Syndrome Ichthyosis, Nettleship Falls Syndrome Oculo-Cerebro-Renal, Oculocerebrorenal Dystrophy, Ocu (X-Linked), Neu-Laxova Syndrome, Neuhauser Syndrome, locerebrorenal Syndrome, Oculocraniosomatic Syndrome Neural-tube defects, Neuralgic Amyotrophy, Neuralgic (obsolete), Oculocutaneous Albinism, Oculocutaneous Albi Amyotrophy, Neuraminidase Deficiency, Neuraocutaneous nism Chediak-Higashi Type, Oculo-Dento-Digital Dyspla melanosis, Neurinoma of the Acoustic Nerve, Neurinoma, sia, Oculo-Dento-Digital Dysplasia, Oculodentodigital Syn Neuroacanthocytosis, Neuroaxonal Dystrophy Schindler drome, Oculo-Dento-Osseous Dysplasia, Oculo-Dento Type, Neurodegeneration with brain iron accumulation type Osseous Dysplasia, Oculo Gastrointestinal Muscular 1 (NBIA1), Neurofibroma of the Acoustic Nerve, Neuro Dystrophy, Oculo Gastrointestinal Muscular Dystrophy, genic Arthrogryposis Multiplex Congenita, Neuromyelitis Oculogastrointestinal Muscular Dystrophy, Oculomandibu Optica, Neuromyotonia, Focal, Neuromyotonia, General lodyscephaly with hypotrichosis, Oculomandibulofacial ized, Familial, Neuromytonia, Generalized, Sporadic, Neu Syndrome, Oculomotor with Congenital Contractures and ronal Axonal Dystrophy Schindler Type, Neuronal Ceroid Muscle Atrophy, Oculosympathetic Palsy, ODD Syndrome, Lipofuscinosis Adult Type, Neuronal Ceroid Lipofuscinosis ODD Syndrome, ODOD, Odontogenic Tumor, Odontotri Juvenile Type, Neuronal Ceroid Lipofuscinosis Type 1, chomelic Syndrome, OFD, OFD Syndrome, Ohio Type Neuronopathic Acute Gaucher Disease, Neuropathic Amy Amyloidosis (Type VII), OI, OI Congenita, OI Tarda, Old loidosis, Neuropathic Beriberi, Neuropathy Ataxia and field Syndrome, Oligohydramnios Sequence, Oligophrenia Retinitis Pigmentosa, Neuropathy of Brachialpelxus Syn Microphthalmos, Oligophrenic Polydystrophy, Olivoponto drome, Neuropathy Hereditary Sensory Type I, Neuropathy cerebellar Atrophy, Olivopontocerebellar Atrophy, Olivop Hereditary Sensory Type II, Neutral Lipid Storage Disease, ontocerebellar Atrophy with Dementia and Extrapyramidal Nevii, Nevoid Basal Cell Carcinoma Syndrome. Nevus, Signs, Olivopontocerebellar Atrophy with Retinal Degen Nevus Cavernosus, Nevus Comedonicus, Nevus Depigmen eration, Olivopontocerebellar Atrophy I, Olivopontocerebel tosus, Nevus Sebaceous of Jadassohn, Nezelof's Syndrome, lar Atrophy II, Olivopontocerebellar Atrophy III, Olivopon Nezelof's Thymic Aplasia, Nezelof Type Severe Combined tocerebellar Atrophy IV. Olivopontocerebellar Atrophy V. Immunodeficiency, NF, NF1, NF2, NF-1, NF-2, NHS, Ollier Disease, Ollier Osteochondromatosis, Omphalocele Niemann Pick Disease, Nieman Pick disease Type A (acute Visceromegaly-Macroglossia Syndrome, Ondine's Curse, neuronopathic form), Nieman Pick disease Type B, Nieman Onion-Bulb Neuropathy, Onion Bulb Polyneuropathy, Ony Pick Disease Type C (chronic neuronopathic form), Nieman choosteodysplasia, Onychotrichodysplasia with Neutrope Pick disease Type D (Nova Scotia variant), Nieman Pick nia, OPCA, OPCAI, OPCA II, OPCA III, OPCA IV, OPCA disease Type E, Nieman Pick disease Type F (sea-blue V. OPD Syndrome, OPD Syndrome Type I, OPD Syndrome histiocyte disease), Night Blindness, Nigrospinodentatal Type II, OPDI Syndrome, OPD II Syndrome, Ophthalmoar Degeneration, Niikawakuroki Syndrome, NLS, NM, Noack thropathy, Ophthalmoplegia-Intestinal Pseudoobstruction, Syndrome Type I, Nocturnal Myoclonus Hereditary Essen Ophthalmoplegia, Pigmentary Degeneration of the Retina tial Myoclonus, Nodular Cornea Degeneration, Non-Bullous and Cadio myopathy, Ophthalmoplegia Plus Syndrome, CIE, Non-Bullous Congenital Ichthyosiform Erythroderma, Ophthalmoplegia Syndrome, Opitz BBB Syndrome, Opitz Non-Communicating Hydrocephalus, Non-Deletion Type BBB/G Compound Syndrome, Opitz BBBG Syndrome, Alpha-Thalassemia/Mental Retardation syndrome. Non-Ke Opitz-Frias Syndrome, Opitz, G. Syndrome, Opitz G/BBB tonic Hyperglycinemia Type I (NKHI), Non-Ketotic Hyper Syndrome, Opitz Hypertelorism-Hypospadias Syndrome, glycinemia, Non-Lipid Reticuloendotheliosis, Non-Neu Opitz-Kaveggia Syndrome, Opitz, Oculogenitolaryngeal ronopathic Chronic Adult Gaucher Disease, Non-Scarring Syndrome, Opitz Trigonocephaly Syndrome, Opitz Syn Epidermolysis Bullosa, Nonarteriosclerotic Cerebral Calci drome, OpSoclonus, OpSoclonus-Myoclonus, Opthalmo fications, Nonarticular Rheumatism, Noncerebral, Juvenile neuromyelitis, Optic Atrophy Polyneuropathy and Deafness, Gaucher Disease. Nondiabetic Glycosuria, Nonischemic Optic Neuroencephalomyelopathy, Optic Neuromyelitis, Cardio myopathy, Nonketotic Hypoglycemia and Carnitine Opticomyelitis, Optochiasmatic Arachnoiditis, Oral-Facial Deficiency due to MCAD Deficiency, Nonketotic Hypogly Clefts, Oral-facial Dyskinesia, Oral Facial Dystonia, Oral cemia Caused by Deficiency of Acyl-CoA Dehydrogenase, Facial-Digital Syndrome, Oral-Facial-Digital Syndrome Nonketotic Glycinemia, Nonne’s Syndrome. Nonne-Mil Type I, Oral-Facial-Digital Syndrome II, Oral-Facial-Digital roy-Meige Syndrome. Nonopalescent Opalescent Dentine, Syndrome III, Oral-Facial-Digital Syndrome IV. Orbital Nonpuerperal Galactorrhea-Amenorrhea, Nonsecretory Cyst with Cerebral and Focal Dermal Malformations, Orni Myeloma, Nonspherocytic Hemolytic Anemia, Nontropical thine Carbamyl Transferase Deficiency, Ornithine Transcar Sprue, Noonan Syndrome, Norepinephrine, Normal Pres bamylase Deficiency, Orocraniodigital Syndrome, Orofacio sure Hydrocephalus, Norman-Roberts Syndrome, Norrbott digital Syndrome, Oromandibular Dystonia, Orthostatic nian Gaucher Disease, Norrie Disease, Norwegian Type Hypotension, Osler-Weber-Rendu disease, Osseous-Oculo Hereditary Cholestasis, NPD, NPS, NS, NSA, Nuchal Dys Dento Dysplasia, Osseous-Oculo-Dento Dysplasia, Osteitis tonia Dementia Syndrome, Nutritional Neuropathy, Nyhan deformans, Osteochondrodystrophy Deformans, Osteochon US 2007/01 35335 A1 Jun. 14, 2007 droplasia, Osteodysplasty of Melnick and Needles, Osteo Deficiency, PCH, PCLD, PCT, PD, PDA, PDH Deficiency, genesis Imperfect, Osteogenesis Imperfecta, Osteogenesis Pearson Syndrome Pyruvate Carboxylase Deficiency, Pedi Imperfecta Congenita, Osteogenesis Imperfecta Tarda, atric Obstructive Sleep Apnea, Peeling Skin Syndrome, Osteohypertrophic Nevus Flammeus, Osteopathia Hyperos Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher Brain totica Scleroticans Multiplex Infantalis, Osteopathia Hyper Sclerosis, Pelizaeus-Merzbacher Brain Sclerosis, Pellagra ostotica Scleroticans Multiplex Infantalis, Osteopathyrosis, Cerebellar Ataxia-Renal Aminoaciduria Syndrome, Pelvic Osteopetrosis, Osteopetrosis Autosomal Dominant Adult Pain Syndrome, Pemphigus Vulgaris, Pena Shokeir II Syn Type, Osteopetrosis Autosomal Recessive Malignant Infan drome, Pena Shokeir Syndrome Type II, Penile Fibromato tile Type, Osteopetrosis Mild Autosomal Recessive Inter sis, Penile Fibrosis, Penile Induration, Penta X Syndrome, mediate Typ, Osteosclerosis Fragilis Generalisata, Osteo Pentalogy of Cantrell, Pentalogy Syndrome, Pentasomy X, sclerotic Myeloma, Ostium Primum Defect (endocardial PEPCK Deficiency, Pepper Syndrome, Perheentupa Syn cushion defects included), Ostium Secundum Defect, OTC drome, Periarticular Fibrositis, Pericardial Constriction with Deficiency, Oto Palato Digital Syndrome, Oto-Palato-Digi Growth Failure, Pericollagen Amyloidosis, Perinatal Poly tal Syndrome Type I, Oto-Palatal-Digital Syndrome Type II, cystic Kidney Diseases, Perineal Anus, Periodic Amyloid Otodental Dysplasia, Otopalatodigital Syndrome, Otopala Syndrome, Periodic Peritonitis Syndrome, Periodic Somno taldigital Syndrome Type II, Oudtshoorn Skin, Ovarian lence and Morbid Hunger, Periodic Syndrome, Peripheral Dwarfism Turner Type, Ovary Aplasia Turner Type, OWR, Cystoid Degeneration of the Retina, Peripheral Dysostosis Oxalosis, Oxidase deficiency, Oxycephaly, Oxycephaly, Nasal Hypoplasia-Mental Retardation, Peripheral Neuritis, Oxycephaly-Acrocephaly, P-V, PA, PAC, Pachyonychia Ich Peripheral Neuropathy, Peritoneopericardial Diaphragmatic tyosiforme, Pachyonychia Congenita with Natal Teeth, Hernia, Pernicious Anemia, Pernicious Anemia, Pernicious Pachyonychia Congenita, Pachyonychia Congenita Kerato Anemia, Peromelia with Micrognathia, Peroneal Muscular sis Disseminata Circumscripta (follicularis), Pachyonychia Atrophy, Peroneal Nerve Palsy, Peroutka Sneeze, Peroxiso Congenita Jadassohn-Lewandowsky Type, PAF with MSA, mal Acyl-CoA Oxidase, Peroxisomal Beta-Oxidation Dis Paget’s Disease, Paget’s Disease of Bone, Paget’s Disease orders, Peroxisomal Bifunctional Enzyme, Peroxisomal of the Breast, Paget’s Disease of the Nipple, Paget’s Disease Thiolase, Peroxisomal Thiolase Deficiency, Persistent Trun of the Nipple and Areola, Pagon Syndrome, Painful Oph cus Arteriosus, Perthes Disease, Petit Mal Epilepsy, Petit thalmoplegia, PAIS, Palatal Myoclonus, Palato-Oto-Digital Mal Variant, Peutz-Jeghers Syndrome, Peutz-Jeghers Syn Syndrome, Palatal-Oto-Digital Syndrome Type I, Palatal drome, Peutz-Touraine Syndrome, Peutz-Touraine Syn Oto-Digital Syndrome Type II, Pallister Syndrome, Pallis drome, Peyronie Disease, Pfeiffer, Pfeiffer Syndrome Type I, ter-Hall Syndrome, Pallister-Killian Mosaic Syndrome, Pal PGA I, PGA II, PGA III, PGK, PH Type I, PH Type I, lister Mosaic Aneuploidy, Pallister Mosaic Syndrome, Pharyngeal Pouch Syndrome, PHD Short-Chain Acyl-CoA Pallister Mosaic Syndrome Tetrasomy 12p. Pallister-W Syn Dehydrogenase Deficiency, Phenylalanine Hydroxylase drome, Palmoplantar Hyperkeratosis and Alopecia, Palsy, Deficiency, Phenylalaninemia, Phenylketonuria, Phenylke Pancreatic Fibrosis, Pancreatic Insufficiency and Bone Mar tonuria, Phenylpyruvic Oligophrenia, Phocomelia, Phoc row Dysfunction, Pancreatic Ulcerogenic Tumor Syndrome, omelia Syndrome, Phosphoenolpyruvate Carboxykinase Panmyelophthisis, Panmyelopathy, Pantothenate kinase Deficiency, Phosphofructokinase Deficiency, Phosphoglyc associated neurodegeneration (PKAN), Papillon-Lefevre erate Kinase Deficiency, Phosphoglycerokinase, Phospho Syndrome, Papillotonic Psuedotabes, Paralysis Periodica rylase 6 Kinase Deficiency, Phosphorylase Deficiency Gly Paramyotonica, Paralytic Beriberi, Paralytic Brachial Neu cogen Storage Disease, Phosphorylase Kinase Deficiency of ritis, Paramedian Lower Lip Pits-Popliteal Pyerygium Syn Liver, Photic Sneeze Reflex, Photic Sneezing, Photothera drome, Paramedian Diencephalic Syndrome, Paramyeloido peutic keratectomy, PHS, Physicist John Dalton, Phytanic sis, Paramyoclonus Multiple, Paramyotonia Congenita, Acid Storage Disease, Pi Phenotype ZZ, PI, Pick Disease of Paramyotonia Congenita of Von Eulenburg, Parkinson's the Brain, Pick's Disease, Pick's Disease, Pickwickian Syn disease, Paroxysmal Atrial Tachycardia, Paroxysmal Cold drome, Pierre Robin Anomalad, Pierre Robin Complex, Hemoglobinuria, Paroxysmal Dystonia, Paroxysmal Dysto Pierre Robin Sequence, Pierre Robin Syndrome, Pierre nia Choreathetosis, Paroxysmal Kinesigenic Dystonia, Par Robin Syndrome with Hyperphalangy and Clinodactyly, oxysmal Nocturnal Hemoglobinuria, Paroxysmal Normal Pierre-Marie's Disease, Pigmentary Degeneration of Globus Hemoglobinuria, Paroxysmal Sleep, Parrot Syndrome, Parry Pallidus Substantia Nigra Red Nucleus, Pili Torti and Nerve Disease, Parry-Romberg Syndrome, Parsonage-Turner Syn Deafness, Pili Torti-Sensorineural Hearing Loss, Pituitary drome, Partial Androgen Insensitivity Syndrome, Partial Dwarfism II, Pituitary Tumor after Adrenalectomy, Pityri Deletion of the Short Arm of Chromosome 4, Partial Dele asis Pilaris, Pityriasis Rubra Pilaris, PJS, PJS, PKAN, PKD, tion of the Short Arm of Chromosome 5, Partial Deletion of PKD1, PKD2, PKD3, PKU, PKU1, Plagiocephaly, Plasma Short Arm of Chromosome 9, Partial Duplication 3q Syn Cell Myeloma, Plasma Cell Leukemia, Plasma Thrombo drome, Partial Duplication 15q Syndrome, Partial Facial plastin Component Deficiency, Plasma Transglutaminase Palsy With Urinary Abnormalities, Partial Gigantism of Deficiency, Plastic Induration Corpora Cavernosa, Plastic Hands and Feet-Nevi-Hemihypertrophy-Macrocephaly, Par Induration of the Penis, PLD, Plicated Tongue, PLS, PMD, tial Lipodystrophy, Partial Monosomy of Long Arm of Pneumorenal Syndrome, PNH, PNM, PNP Deficiency, Chromosome 11, Partial Monosomy of the Long Arm of POD, POH, Poikiloderma Atrophicans and Cataract, Poiki Chromosome 13, Partial Spinal Sensory Syndrome, Partial loderma Congenitale, Poland Anomaly, Poland Sequence, Trisomy 11q, Partington Syndrome, PAT. Patent Ductus Poland Syndactyly, Poland Syndrome, Poliodystrophia Arteriosus, Pathological Myoclonus, Pauciarticular-Onset Cerebri Progressiva, Polyarthritis Enterica, Polyarteritis Juvenile Arthritis, Pauciarticular-Onset Juvenile Arthritis, Nodosa, Polyarticular-Onset Juvenile Arthritis Type I, Pol Paulitis, PBC, PBS, PC Deficiency, PC Deficiency Group A, yarticular-Onset Juvenile Arthritis Type II, Polyarticular PC Deficiency Group B, PC, Eulenburg Disease, PCC Onset Juvenile Arthritis Types I and II, Polychondritis, US 2007/01 35335 A1 Jun. 14, 2007 59

Polycystic Kidney Disease, Polycystic Kidney Disease mary Familial Hypoplasia of the Maxilla, Primary Hemo Medullary Type, Polycystic Kidney Disease Medullary chromatosis, Primary Hyperhidrosis, Primary Hyperox Type, Polycystic Liver Disease, Polycystic Ovary Disease, aluria Type I, Primary Hyperoxaluria Type 1 (PH1), Polycystic Renal Diseases, Polydactyly-Joubert Syndrome, Primary Hyperoxaluria Type 1, Primary Hyperoxaluria Type Polydysplastic Epidermolysis Bullosa, Polydystrophia Oli II, Primary Hyperoxaluria Type III, Primary Hypogonadism, gophrenia, Polydystrophic Dwarfism, Polyglandular Primary Intestinal Lymphangiectasia, Primary Lateral Scle Autoimmune Syndrome Type III, Polyglandular Autoim rosis, Primary Nonhereditary Amyloidosis, Primary Oblit mune Syndrome Type II, Polyglandular Autoimmune Syn erative Pulmonary Vascular Disease, Primary Progressive drome Type I, Polyglandular Autoimmune Syndrome Type Multiple Sclerosis, Primary Pulmonary Hypertension, Pri II, Polyglandular Deficiency Syndrome Type II, Polyglan mary Reading Disability, Primary Renal Glycosuria, Pri dular Syndromes, Polymorphic Macula Lutea Degeneration, mary Sclerosing Cholangitis, Primary Thrombocythemia, Polymorphic Macular Degeneration, Polymorphism of Primary Tumors of Central Nervous System, Primary Visual Platelet Glycoprotien Ib, Polymorphous Corneal Dystrophy Agnosia, Proctocolitis Idiopathic, Proctocolitis Idiopathic, Hereditary, Polymyalgia Rheumatica, Polymyalgia Rheu Progeria of Adulthood, Progeria of Childhood, Progeroid matica, Polymyositis and Dermatomyositis, Primary Agam Nanism, Progeriod Short Stature with Pigmented Nevi, mag-lobulinemi, Polyneuritis Peripheral, Polyneuropathy Progeroid Syndrome of De Barsy, Progressive Autonomic Deafness-Optic Atrophy, Polyneuropathy Peripheral, Failure with Multiple System Atrophy, Progressive Bulbar Polyneuropathy and Polyradiculoneuropathy, Polyostotic Palsy, Progressive Bulbar Palsy Included, Progressive Car Fibrous Dysplasia, Polyostotic Sclerosing Histiocytosis, diomyopathic Lentiginosis, Progressive Cerebellar Ataxia Polyposis Familial, Polyposis Gardner Type, Polyposis Familial, Progressive Cerebral Poliodystrophy, Progressive Hamartomatous Intestinal, Polyposis Hamartomatous Intes Choroidal Atrophy, Progressive Diaphyseal Dysplasia, Pro tinal, Polyposis-Osteomatosis-Epidermoid Cyst Syndrome, gressive Facial Hemiatrophy, Progressive Familial Myo Polyposis Skin Pigmentation Alopecia and Fingernail clonic Epilepsy, Progressive Hemifacial Atrophy, Progres Changes, Polyps and Spots Syndrome, Polyps and Spots sive Hypoerythemia, Progressive Infantile Poliodystrophy, Syndrome, Polyserositis Recurrent, Polysomy Y. Polysyn Progressive Lenticular Degeneration, Progressive Lipodys dactyly with Peculiar Skull Shape, Polysyndactyly-Dysmor trophy, Progressive Muscular Dystrophy of Childhood, Pro phic Craniofacies Greig Type, Pompe Disease, Pompe Dis gressive Myoclonic Epilepsy, Progressive Osseous Hetero ease, Popliteal Pterygium Syndrome, Porcupine Man, plasia, Progressive Pallid Degeneration Syndrome, Porencephaly, Porencephaly, Porphobilinogen deaminase Progressive Pallid Degeneration Syndrome, Progressive (PBG-D), Porphyria, Porphyria Acute Intermittant, Porphy Spinobulbar Muscular Atrophy, Progressive Supranuclear ria Acute Intermittent, Porphyria ALA-D, Porphyria Cuta Palsy, Progressive Systemic Sclerosis, Progressive Tapeto nea Tarda, Porphyria Cutanea Tarda, Porphyria Cutanea choroidal Dystrophy, Proline Oxidase Deficiency, Propionic Tarda Hereditaria, Porphyria Cutanea Tarda Symptomatica, Acidemia, Propionic Acidemia, Propionic Acidemia Type I Porphyria Hepatica Variegate, Porphyria Swedish Type, (PCCA Deficiency), Propionic Acidemia Type II (PCCB Porphyria Variegate, Porphyriam Acute Intermittent, Por Deficiency), Propionyl CoA Carboxylase Deficiency, Pro phyrins, Porrigo Decalvans, Port Wine Stains, Portuguese pionyl CoA Carboxylase Deficiency, Protanomaly, Protano Type Amyloidosis, Post-Infective Polyneuritis, Postanoxic pia, Protein-Losing Enteropathy Secondary to Congestive Intention Myoclonus, Postaxial Acrofacial Dysostosis, Post Heart Failure, Proteus Syndrome, Proximal Deletion of 4q axial Polydactyly, Postencephalitic Intention Myoclonus, Included, Proximal Deletion of 4q-Included, PRP PRS, Posterior Corneal Dystrophy Hereditary, Posterior Thalamic Prune Belly Syndrome, PS, Pseudo-Hurler Polydystrophy, Syndrome, Postmyelographic Arachnoiditis, Postnatal Cere Pseudo-Polydystrophy, Pseudoacanthosis Nigricans, bral Palsy, Postoperative Cholestasis, Postpartum Galactor Pseudoachondroplasia, Pseudocholinesterase Deficiency, rhea-Amenorrhea Syndrome, Postpartum Hypopituitarism, Pseudogout Familial, Pseudohemophilia, Pseudohermaph Postpartum Panhypopituitary Syndrome, Postpartum Pan roditism, Pseudohermaphroditism-Nephron Disorder hypopituitarism, Postpartum Pituitary Necrosis, Postural Wilm's Tumor, Pseudohypertrophic Muscular Dystrophy, Hypotension, Potassium-Losing Nephritis, Potassium Loss Pseudohypoparathyroidism, Pseudohypophosphatasia, Syndrome, Potter Type I Infantile Polycystic Kidney Dis Pseudopolydystrophy, Pseudothalidomide Syndrome, Pseu eases, Potter Type III Polycystic Kidney Disease, PPH, PPS, doxanthoma Elasticum, Psoriasis, Psorospermosis Follicu Prader-Willi Syndrome, Prader-Labhart-Willi Fancone Syn laris, PSP, PSS, Psychomotor Convulsion, Psychomotor drome, Prealbumin Tyr-77 Amyloidosis, Preexcitation Syn Epilepsy, Psychomotor Equivalent Epilepsy, PTC Defi drome, Preexcitation Syndrome, Pregnenolone Deficiency, ciency, Pterygium, Pterygium Colli Syndrome, Pterygium Premature Atrial Contractions, Premature Senility Syn Universale, Pterygolymphangiectasia, Pulmonary Atresia, drome, Premature Supraventricular Contractions, Premature Pulmonary Lymphangiomyomatosis, Pulmonary Stenosis, Ventricular Complexes, Prenatal or Connatal Neuroaxonal Pulmonic Stenosis-Ventricular Septal Defect, Pulp Stones, Dystrophy, Presenile Dementia, Presenile Macula Lutea Pulpal Dysplasia, Pulseless Disease, Pure Alymphocytosis, Retinae Degeneration, Primary Adrenal Insufficiency, Pri Pure Cutaneous Histiocytosis, Purine Nucleoside Phospho mary Agammaglobulinemias, Primary Aldosteronism, Pri rylase Deficiency, Purpura Hemorrhagica, Purtilo Syn mary Alveolar Hypoventilation, Primary Amyloidosis, Pri drome, PXE, PXE Dominant Type, PXE Recessive Type, mary Anemia, Primary Anemia, Primary Beriberi, Primary Pycnodysostosis, Pyknodysostosis, Pyknoepilepsy, Pyro Biliary, Primary Biliary Cirrhosis, Primary Brown Syn glutamic Aciduria, Pyroglutamicaciduria, Pyrroline Car drome, Primary Carnitine Deficiency, Primary Central boxylate Dehydrogenase Deficiency, Pyruvate Carboxylase Hypoventilation Syndrome, Primary Ciliary Dyskinesia Deficiency, Pyruvate Carboxylase Deficiency Group A, Kartagener Type, Primary Cutaneous Amyloidosis, Primary Pyruvate Carboxylase Deficiency Group B, Pyruvate Dehy Dystonia, Primary Failure Adrenocortical Insufficiency, Pri drogenase Deficiency, Pyruvate Dehydrogenase Deficiency, US 2007/01 35335 A1 Jun. 14, 2007 60

Pyruvate Dehydrogenase Deficiency, Pyruvate Kinase Defi Ring Chromosome 18, Ring 21, Ring 21 Chromosome, Ring ciency, q25-qter, q26 or q27-qter, q31 or 32-qter, QT Pro 22, Ring 22 Chromosome, Ritter Disease, Ritter-Lyell Syn longation with Extracellular Hypohypocalcinemia, QT Pro drome, RLS, RMSS, Roberts SC-Phocomelia Syndrome, longation without Congenital Deafness, QT Prolonged with Roberts Syndrome, Roberts Tetraphocomelia Syndrome, Congenital Deafness, Quadriparesis of Cerebral Palsy, Robertson's Ectodermal Dysplasias, Robin Anomalad, Quadriplegia of Cerebral Palsy, Quantal Squander, Quantal Robin Sequence, Robin Syndrome, Robinow Dwarfism, Squander, ra, ré, r14, r 18, r21, r22, Rachischisis Posterior, Robinow Syndrome, Robinow Syndrome Dominant Form, Radial Aplasia-Amegakaryocytic Thrombocytopenia, Robinow Syndrome Recessive Form, Rod myopathy, Roger Radial Aplasia-Thrombocytopenia Syndrome, Radial Nerve Disease, Rokitansky's Disease, Romano-Ward Syndrome, Palsy, Radicular Neuropathy Sensory, Radicular Neuropathy Romberg Syndrome, Rootless Teeth, Rosenberg-Chutorian Sensory Recessive, Radicular Dentin Dysplasia, Rapid-on Syndrome, Rosewater Syndrome, Rosewater Syndrome, set Dystonia-parkinsonism, Rapp-Hodgkin Syndrome, Rosselli-Gulienatti Syndrome, Rothmund-Thomson Syn Rapp-Hodgkin (hypohidrotic) Ectodermal Dysplasia Syn drome, Roussy-Levy Syndrome, RP, RSX-Linked, RS, RS, drome, Rapp-Hodgkin Hypohidrotic Ectodermal Dyspla RSDS, RSH Syndrome, RSS, RSTS, RTS, Rubella Con sias, Rare hereditary ataxia with polyneuritic changes and genital, Rubinstein Syndrome, Rubinstein-Taybi Syndrome, deafness caused by a defect in the enzyme phytanic acid Rubinstein Taybi Broad Thumb-Hallux syndrome, Rufous hydroxylase, Rautenstrauch-Wiedemann Syndrome, Rau Albinism, Ruhr's Syndrome, Russells Diencephalic tenstrauch-Wiedemann Type Neonatal Progeria, Raynaud's Cachexia, Russell's Syndrome, Russell Syndrome, Russell Phenomenon, RDP. Reactive Functional Hypoglycemia, Silver Dwarfism, Russell-Silver Syndrome, Russell-Silver Reactive Hypoglycemia Secondary to Mild Diabetes, Reces Syndrome X-linked, Ruvalcaba-Myhre-Smith syndrome sive Type Kenny-Caffe Syndrome, Recklin Recessive Type (RMSS), Ruvalcaba Syndrome, Ruvalcaba Type Osseous Myotonia Congenita, Recklinghausen Disease, Recto Dysplasia with Mental Retardation, Sacral Regression, Sac perineal Fistula, Recurrent Vomiting, Reflex Neurovascular ral Agenesis Congenital, SAE, Saethre-Chotzen Syndrome, Dystrophy, Reflex Sympathetic Dystrophy Syndrome, Sakati, Sakati Syndrome, Sakati-Nyhan Syndrome, Salaam Refractive Errors, Refractory Anemia, Refrigeration Palsy, Spasms, Salivosudoriparous Syndrome, Salzman Nodular Refsum Disease, Refsum's Disease, Regional Enteritis, Corneal Dystrophy, Sandhoff Disease, Sanfilippo Syndrome, Reid-Barlow's syndrome, Reifenstein Syndrome, Reifen Sanfilippo Type A, Sanfilippo Type B, Santavuori Disease, stein Syndrome, Reiger Anomaly-Growth Retardation, Santavuori-Haltia Disease, Sarcoid of Boeck, Sarcoidosis, Reiger Syndrome, Reimann Periodic Disease, Reimann's Sathre-chotzen, Saturday Night Palsy, SBMA, SC Phocome Syndrome, Reis-Bucklers Corneal Dystrophy, Reiter's Syn lia Syndrome, SC Syndrome, SCA 3, SCAD Deficiency, drome, Reiter's Syndrome, Relapsing Guillain-Barre Syn SCAD Deficiency Adult-Onset Localized, SCAD Defi drome, Relapsing-Remitting Multiple Sclerosis, Renal ciency Congenital Generalized, SCAD, SCADHDeficiency, Agenesis, Renal Dysplasia-Blindness Hereditary, Renal Scalded Skin Syndrome, Scalp Defect Congenital, Scapho Dysplasia-Retinal Aplasia Loken-Senior Type, Renal Gly cephaly, Scapula Elevata, Scapuloperoneal myopathy, cosuria, Renal Glycosuria Type A, Renal Glycosuria Type B, Scapuloperoneal Muscular Dystrophy, Scapuloperoneal Renal Glycosuria Type O, Renal-Oculocerebrodystrophy, Syndrome Myopathic Type, Scarring Bullosa, Scarring Renal-Retinal Dysplasia with Medullary Cystic Disease, Bullosa, SCHAD, Schaumann's Disease, Scheie Syndrome, Renal-Retinal Dysplasia with Medullary Cystic Disease, Schereshevkii-Turner Syndrome, Schilder Disease, Schilder Renal-Retinal Dystrophy Familial, Renal-Retinal Syn Encephalitis, Schilder's Disease, Schindler Disease Type I drome, Rendu-Osler-Weber Syndrome, Respiratory Acido (Infantile Onset), Schindler Disease Infantile Onset, Schin sis, Respiratory Chain Disorders, Respiratory Myoclonus, dler Disease, Schindler Disease Type II (Adult Onset), Restless Legs Syndrome, Restrictive Cardio myopathy, Schinzel Syndrome, Schinzel-Giedion Syndrome, Schinzel Retention Hyperlipemia, Rethore Syndrome (obsolete), Acrocallosal Syndrome, Schinzel-Giedion Midface-Retrac Reticular Dysgenesis, Retinal Aplastic-Cystic Kidneys-Jou tion Syndrome, Schizencephaly, Schmid Type Metaphyseal bert Syndrome, Retinal Cone Degeneration, Retinal Cone Chondrodysplasia, Schmid Metaphyseal Dysostosis, Dystrophy, Retinal Cone-Rod Dystrophy, Retinitis Pigmen Schmid-Fraccaro Syndrome, Schmidt Syndrome, Schopf tosa, Retinitis Pigmentosa and Congenital Deafness, Ret Schultz-Passarge Syndrome, Schueller-Christian Disease, inoblastoma, Retinol Deficiency, Retinoschisis, Retinoschi Schut-Haymaker Type, Schwartz-Jampel-Aberfeld Syn sis Juvenile, Retraction Syndrome, Retrobulbar Neuropathy, drome, Schwartz-Jampel Syndrome Types 1A and 1B, Retrolenticular Syndrome, Rett Syndrome, Reverse Coarc Schwartz-Jampel Syndrome, Schwartz-Jampel Syndrome tion, Reye Syndrome, Reye's Syndrome, RGS, Rh Blood Type 2, SCI, D SCID, Scleroderma, Scleroderma, Sclerosis Factors, Rh Disease, Rh Factor Incompatibility, Rh Incom Familial Progressive Systemic, Sclerosis Diffuse Familial patibility, Rhesus Incompatibility, Rheumatic Fever, Rheu Brain, Scott Craniodigital Syndrome With Mental Retarda matoid Arthritis, Rheumatoid Myositis, Rhinosinusogenic tion, Scrotal Tongue, SCS, SD, SDS, SDYS, Seasonal Cerebral Arachnoiditis, Rhizomelic Chondrodysplasia Conjunctivitis, Sebaceous Nevus Syndrome, Sebaceous Punctata (RCDP), Acatalasemia, Classical Refsum disease, nevus, Seborrheic Keratosis, Seborrheic Warts, Seckel Syn RHS, Rhythmical Myoclonus, Rib Gap Defects with Micro drome, Seckel Type Dwarfism, Second Degree Congenital gnathia, Ribbing Disease (obsolete), Ribbing Disease, Rich Heart Block, Secondary Amyloidosis, Secondary Ble ner-Hanhart Syndrome, Rieger Syndrome, Rieter's Syn pharospasm, Secondary Non-tropical Sprue, Secondary drome, Right Ventricular Fibrosis, Riley-Day Syndrome, Brown Syndrome, Secondary Beriberi, Secondary General Riley-Smith syndrome, Ring Chromosome 14, Ring Chro ized Amyloidosis, Secondary Dystonia, Secretory Compo mosome 18, Ring 4, Ring 4 Chromosome, Ring 6. Ring 6 nent Deficiency, Secretory IgA Deficiency, SED Tarda, SED Chromosome, Ring 9, Ring 9 Chromosome R9, Ring 14. Congenital, SEDC, Segmental linear achromic nevus, Seg Ring 15, Ring 15 Chromosome (mosaic pattern), Ring 18, mental Dystonia, Segmental Myoclonus, Seip Syndrome, US 2007/01 35335 A1 Jun. 14, 2007

Seitelberger Disease, Seizures, Selective Deficiency of IgG Spasmodic Torticollis, Spasmodic Wryneck, Spastic Cere Subclasses, Selective Mutism, Selective Deficiency of IgG bral Palsy, Spastic Colon, Spastic Dysphonia, Spastic Subclass, Selective IgM Deficiency, Selective Mutism, Paraplegia, SPD Calcinosis, Specific Antibody Deficiency Selective IgA Deficiency, Self-Healing Histiocytosis, Semi with Normal Immunoglobulins, Specific Reading Disability, lobar Holoprosencephaly, Seminiferous Tubule Dysgenesis, SPH2, Spherocytic Anemia, Spherocytosis, Spherophakia Senile Retinoschisis, Senile Warts, Senior-Loken Syndrome, Brachymorphia Syndrome, Sphingomyelin Lipidosis, Sph Sensory Neuropathy Hereditary Type I, Sensory Neuropathy ingomyelinase Deficiency, Spider fingers, Spielmeyer-Vogt Hereditary Type II, Sensory Neuropathy Hereditary Type I, Disease, Spielmeyer-Vogt-Batten Syndrome, Spina Bifida, Sensory Radicular Neuropathy, Sensory Radicular Neuropa Spina Bifida, Spina Bifida Aperta, Spinal Arachnoiditis, thy Recessive, Septic Progressive Granulomatosis, Septo Spinal Arteriovenous Malformation, Spinal Ataxia Hered Optic Dysplasia, Serous Circumscribed Meningitis, Serum itofamilial, Spinal and Bulbar Muscular Atrophy, Spinal Protease Inhibitor Deficiency, Serum Carnosinase Defi Diffuse Idiopathic Skeletal Hyperostosis, Spinal DISH, Spi ciency, Setleis Syndrome. Severe Combined Immunodefi nal Muscular Atrophy, Spinal Muscular Atrophy All Types, ciency, Severe Combined Immunodeficiency with Adenos Spinal Muscular Atrophy Type ALS, Spinal Muscular Atro ine Deaminase Deficiency, Severe Combined phy-Hypertrophy of the Calves, Spinal Muscular Atrophy Immunodeficiency (SCID), Sex Reversal, Sexual Infanti Type I, Spinal Muscular Atrophy Type III, Spinal Muscular lism, SGB Syndrome. Sheehan Syndrome, Shields Type Atrophy type 3, Spinal Muscular Atrophy-Hypertrophy of Dentinogenesis Imperfecta, Shingles, varicella-Zoster virus, the Calves, Spinal Ossifying Arachnoiditis, Spinal Stenosis, Ship Beriberi, SHORT Syndrome, Short Arm 18 Deletion Spino Cerebellar Ataxia, Spinocerebellar Atrophy Type I, Syndrome, Short Chain Acyl CoA Dehydrogenase Defi Spinocerebellar Ataxia Type I (SCA1), Spinocerebellar ciency, Short Chain Acyl-CoA Dehydrogenase (SCAD) Ataxia Type II (SCAII), Spinocerebellar Ataxia Type III Deficiency, Short Stature and Facial Telangiectasis, Short (SCAIII), Spinocerebellar Ataxia Type III (SCA3), Spinoc Stature Facial/Skeletal Anomalies-Retardation-Macrodon erebellar Ataxia Type IV (SCAIV), Spinocerebellar Ataxia tia, Short Stature-Hyperextensibility-Rieger Anomaly Type V (SCAV), Spinocerebellar Ataxia Type VI (SCAVI), Teething Delay, Short Stature-Onychrodysplasia, Short Stat Spinocerebellar Ataxia Type VII (SCAVII), Spirochetal ure Telangiectatic Erythema of the Face, SHORT Syndrome, Jaundice, Splenic Agenesis Syndrome, Splenic Ptosis, Sple Shoshin Beriberi, Shoulder girdle syndrome, Shprintzen noptosis, Split Hand Deformity-Mandibulofacial Dysosto Goldberg Syndrome, Shulman Syndrome, Shwachman-Bo sis, Split Hand Deformity-Mandibulofacial Dysostosis, Split dian Syndrome, Shwachman-Diamond Syndrome, Shwach Hand Deformity, Split-Hand Deformity, Spondyloarthritis, man Syndrome, Shwachman-Diamond-Oski Syndrome, Spondylocostal Dysplasia Type I, Spondyloepiphyseal Shwachmann Syndrome, Shy Drager Syndrome, Shy-Ma Dysplasia Tarda, Spondylothoracic Dysplasia, Spondylotic gee Syndrome, SI Deficiency, Sialidase Deficiency, Sialido Caudal Radiculopathy, Sponge Kidney, Spongioblastoma sis Type I Juvenile, Sialidosis Type II Infantile, Sialidosis, Multiforme, Spontaneous Hypoglycemia, Sprengel Defor Sialolipidosis, Sick Sinus Syndrome, Sickle Cell Anemia, mity, Spring Ophthalmia, SRS, ST, Stale Fish Syndrome, Sickle Cell Disease, Sickle Cell-Hemoglobin C Disease, Staphyloccal Scalded Skin Syndrome, Stargardt’s Disease, Sickle Cell-Hemoglobin D Disease, Sickle Cell-Thalas Startle Disease, Status Epilepticus, Steele-Richardson semia Disease, Sickle Cell Trait, Sideroblastic Anemias, Olszewski Syndrome, Steely Hair Disease, Stein-Leventhal Sideroblastic Anemia, Sideroblastosis, Sideroblastosis, Syndrome, Steinert Disease, Stengel’s Syndrome, Stengel SIDS, Siegel-Cattan-Mamou Syndrome, Siemens-Bloch Batten-Mayou-Spielmeyer-Vogt-Stock Disease, Stenosing type Pigmented Dermatosis, Siemens Syndrome, Siewer Cholangitis, Stenosis of the Lumbar Vertebral Canal, Steno ling-Creutzfeldt Disease, Siewert Syndrome, Silver Syn sis, Steroid Sulfatase Deficiency, Stevanovic's Ectodermal drome, Silver-Russell Dwarfism, Silver-Russell Syndrome, Dysplasias, Stevens Johnson Syndrome, Stevens-Johnson Simmond's Disease, Simons Syndrome, Simplex Epider Syndrome, STGD, Stickler Syndrome, Stickler Syndrome, molysis Bullosa, Simpson Dysmorphia Syndrome, Simp Stiff-Man Syndrome, Stiff Person Syndrome, Still's Disease, son-Golabi-Behmel Syndrome, Sinding-Larsen-Johansson Stilling-Turk-Duane Syndrome, Stillis Disease, Stimulus Disease, Singleton-Merten Syndrome, Sinus Arrhythmia, Sensitive Myoclonus, Stone Man Syndrome, Stone Man, Sinus Venosus, Sinus tachycardia, Sirenomelia Sequence, Streeter Anomaly, Striatonigral Degeneration Autosomal Sirenomelus, Situs Inversus Bronchiectasis and Sinusitis, Dominant Type, Striopallidodentate Calcinosis, Stroma, SJA Syndrome, Sjogren Larsson Syndrome Ichthyosis, Descemet's Membrane, Stromal Corneal Dystrophy, Struma Sjogren Syndrome, Sjogren Larsson Syndrome Ichthyosis, Lymphomatosa, Sturge-Kalischer-Weber Syndrome, Sturge Sjögren's Syndrome, SJS, Skeletal dysplasia, Skeletal Dys Weber Syndrome, Sturge-Weber Phakomatosis, Subacute plasia Weismann Netter Stuhl Type, Skin Peeling Syndrome, Necrotizing Encephalomyelopathy, Subacute Spongiform Skin Neoplasms, Skull Asymmetry and Mild Retardation, Encephalopathy, Subacute Necrotizing Encephalopathy, Skull Asymmetry and Mild Syndactyly, SLE, Sleep Epi Subacute Sarcoidosis, Subacute Neuronopathic, Subaortic lepsy, Sleep Apnea, SLO, Sly Syndrome, SMA, SMA Infan Stenosis, Subcortical Arteriosclerotic Encephalopathy, Sub tile Acute Form, SMAI, SMA III, SMA type I, SMA type II, endocardial Sclerosis, Succinylcholine Sensitivity. Sucrase SMA type III, SMA3, SMAX1, SMCR, Smith Lemli Opitz Isomaltase Deficiency Congenital. Sucrose-Isomaltose Mal Syndrome, Smith Magenis Syndrome, Smith-Magenis absorption Congenital. Sucrose Intolerance Congenital, Chromosome Region, Smith-McCort Dwarfism, Smith Sudanophilic Leukodystrophy ADL, Sudanophilic Leukod Opitz-Inborn Syndrome, Smith Disease, Smoldering ystrophy Pelizaeus-Merzbacher Type, Sudanophilic Leu Myeloma, SMS, SNE, Sneezing From Light Exposure, kodystrophy Included, Sudden Infant Death Syndrome, Sodium valproate, Solitary Plasmacytoma of Bone, Sorsby Sudeck’s Atrophy, Sugio-Kajii Syndrome, Summerskill Disease, Sotos Syndrome, Souques-Charcot Syndrome, Syndrome, Summit Acrocephalosyndactyly, Summitt's South African Genetic Porphyria, Spasmodic Dysphonia, Acrocephalosyndactyly, Summitt Syndrome, Superior US 2007/01 35335 A1 Jun. 14, 2007 62

Oblique Tendon Sheath Syndrome, Suprarenal glands, Sup drome, Tonic Spasmodic Torticollis, Tonic Pupil Syndrome, ravalvular Aortic Stenosis, Supraventricular tachycardia, Tooth and Nail Syndrome, Torch Infection, TORCH Syn Surdicardiac Syndrome, Surdocardiac Syndrome, SVT, drome, Torsion Dystonia, Torticollis, Total Lipodystrophy, Sweat Gland Abscess, Sweating Gustatory Syndrome, Total anomalous pulmonary venous connection, Touraine's Sweet Syndrome, Swiss Cheese Cartilage Syndrome, Syn Aphthosis, Tourette Syndrome, Tourette's disorder, Townes dactylic Oxycephaly, Syndactyly Type I with Microcephaly Brocks Syndrome, Townes Syndrome, Toxic Paralytic Ane and Mental Retardation, Syndromatic Hepatic Ductular mia, Toxic Epidermal Necrolysis, Toxopachyosteose Dia Hypoplasia, Syringomyelia, Systemic Aleukemic Reticu physaire Tibio-Peroniere, ToXopachyosteose, loendotheliosis, Systemic Amyloidosis, Systemic Carnitine Toxoplasmosis Other Agents Rubella Cytomegalovirus Her Deficiency, Systemic Elastorrhexis, Systemic Lupus Erythe pes Simplex, Tracheoesophageal Fistula with or without matosus, Systemic Mast Cell Disease, Systemic Mastocy Esophageal Atresia, Tracheoesophageal Fistula, Transient tosis, Systemic-Onset Juvenile Arthritis, Systemic-Onset neonatal myasthenia gravis, Transitional Atrioventricular Juvenile Arthritis, Systemic Sclerosis, Systopic Spleen, Septal Defect, Transposition of the great arteries, Transtele T-Lymphocyte Deficiency, Tachyalimentation Hypoglyce phonic Monitoring, Transthyretin Methionine-30 Amyloido mia, Tachycardia, Takahara syndrome, Takayasu Disease, sis (Type I), Trapezoidocephaly-Multiple Synostosis Syn Takayasu Arteritis, Takayasu Arteritis, Talipes Calcaneus, drome, Treacher Collins Syndrome, Treacher Collins Talipes Equinovarus, Talipes Equinus, Talipes Varus, Talipes Franceschetti Syndrome 1, Trevor Disease, Triatrial Heart, Valgus, Tandem Spinal Stenosis, Tangier Disease, Tape Tricho-Dento-Osseous Syndrome, Trichodento Osseous toretinal Degeneration, TAR Syndrome, Tardive Dystonia, Syndrome, Trichopoliodystrophy, Trichorhinophalangeal Tardive Muscular Dystrophy, Tardive Dyskinesia, Tardive Syndrome, Trichorhinophalangeal Syndrome, Tricuspid Oral Dyskinesia, Tardive Dyskinesia, Tardive Dystonia, atresia, Trifunctional Protein Deficiency, Trigeminal Neu Tardy Ulnar Palsy, Target Cell Anemia, Tarsomegaly, Tarui ralgia, Triglyceride Storage Disease Impaired Long-Chain Disease, TAS Midline Defects Included, TAS Midline Fatty Acid Oxidation, Trigonitis, Trigonocephaly, Trigono Defect, Tay Sachs Disease, Tay Sachs Sphingolipidosis, Tay cephaly, Trigonocephaly, Trigonocephaly Syndrome, Trigo Sachs Disease, Tay Syndrome Ichthyosis, Tay Sachs Sph nocephaly “C” Syndrome, Trimethylaminuria, Tripha ingolipidosis, Tay Syndrome Ichthyosis, Taybi Syndrome langeal Thumbs-Hypoplastic Distal Phalanges Type I, Taybi Syndrome, TCD, TCOF1, TCS, TD, TDO Onychodystrophy, Triphalangeal Thumb Syndrome, Triple Syndrome, TDO-I. TDO-II, TDO-III, Telangiectasis, Tele Symptom Complex of Behcet, Triple X Syndrome, Triplo X canthus with Associated Abnormalities, Telecanthus With Syndrome, Triploid Syndrome, Triploidy, Triploidy Syn Associated Abnormalities, Telecanthus-Hypospadias Syn drome, Trismus-Pseudocamptodactyly Syndrome, Trisomy, drome, Temporal Lobe Epilepsy, Temporal Arteritis/Giant Trisomy G Syndrome, Trisomy X, Trisomy 6q Partial, Cell Arteritis, Temporal Arteritis, TEN, Tendon Sheath Trisomy 6q Syndrome Partial, Trisomy 9 Mosaic, Trisomy Adherence Superior Obliqu, Tension Myalgia, Terminal 9P Syndrome (Partial) Included, Trisomy 11q Partial, Tri Deletion of 4q Included, Terminal Deletion of 4q-Included, somy 14 Mosaic, Trisomy 14 Mosaicism Syndrome, Tri Terrian Corneal Dystrophy, Teschler-Nicola/Killian Syn somy 21 Syndrome, Trisomy 22 Mosaic, Trisomy 22 Mosa drome, Tethered Spinal Cord Syndrome, Tethered Cord icism Syndrome, TRPS, TRPS1, TRPS2, TRPS3, True Malformation Sequence, Tethered Cord Syndrome, Tethered Hermaphroditism, True Hermaphroditism, Truncus arterio Cervical Spinal Cord Syndrome, Tetrahydrobiopterin Defi sus, Tryptophan Malabsorption, Tryptophan Pyrrolase Defi ciencies, Tetrahydrobiopterin Deficiencies, Tetralogy of Fal ciency, TS, TTP, TTTS, Tuberous Sclerosis, Tubular Ectasia, lot, Tetralogy of Fallot, Tetraphocomelia-Thrombocytopenia Turcot Syndrome, Turner Syndrome, Turner-Kieser Syn Syndrome, Tetrasomy Short Arm of Chromosome 9, Tetra drome, Turner Phenotype with Normal Chromosomes somy 9p, Tetrasomy Short Arm of Chromosome 18, Tha (Karyotype), Turner-Varny Syndrome, Turricephaly, Twin lamic Syndrome, Thalamic Pain Syndrome, Thalamic Twin Transfusion Syndrome, Twin-to-Twin Transfusion Hyperesthetic Anesthesia, Thalassemia Intermedia, Thalas Syndrome, Type A, Type B, Type AB, Type O, Type I semia Minor, Thalassemia Major. Thiamine Deficiency, Diabetes, Type I Familial Incomplete Male, Type I Familial Thiamine-Responsive Maple Syrup Urine Disease. Thin Incomplete Male Pseudohermaphroditism, Type I Gaucher Basement-Membrane Nephropathy. Thiolase deficiency, Disease, Type I (PCCA Deficiency). Type I Tyrosinemia, RCDP. Acyl-CoA dihydroxyacetonephosphate acyltrans Type II Gaucher Disease, Type II Histiocytosis, Type II ferase. Third and Fourth Pharyngeal Pouch Syndrome. Third (PCCB Deficiency). Type II Tyrosinnemia, Type IIA Distal Degree Congenital (Complete) Heart Block, Thomsen Dis Arthrogryposis Multiplex Congenita, Type III Gaucher Dis ease, Thoracic-Pelvic-Phalangeal Dystrophy, Thoracic Spi ease, Type III Tyrosinemia, Type III Dentinogenesis Imper nal Canal, Thoracoabdominal Syndrome, Thoracoabdomi fecta, Typical Retinoschisis, Tyrosinase Negative Albinism nal Ectopia Cordis Syndrome. Three M Syndrome. Three-M (Type I), Tyrosinase Positive Albinism (Type II), Tyrosine Slender-Boned Nanism, Thrombasthenia of Glanzmann and mia type 1 acute form, Tyrosinemia type 1 chronic form, Naegeli, Thrombocythemia Essential, Thrombocytopenia Tyrosinosis, UCE, Ulcerative Colitis, Ulcerative Colitis Absent Radius Syndrome, Thrombocytopenia-Hemangioma Chronic Non-Specific, Ulnar-Mammary Syndrome, Ulnar Syndrome, Thrombocytopenia-Absent Radii Syndrome, Mammary Syndrome of Pallister, Ulnar Nerve Palsy, UMS, Thrombophilia Hereditary Due to AT III, Thrombotic Unclassified FODs, Unconjugated Benign Bilirubinemiav, Thrombocytopenic Purpura, Thromboulcerative Colitis, Underactivity of Parathyroid, Unilateral Ichthyosiform Thymic Dysplasia with Normal Immunoglobulins, Thymic Erythroderma with Ipsilateral Malformations Limb, Unilat Agenesis, Thymic Aplasia DiGeorge Type, Thymic Hypo eral Chondromatosis, Unilateral Defect of Pectoralis Muscle plasia Agammaglobulinemias Primary Included, Thymic and Syndactyly of the Hand, Unilateral Hemidysplasia Type, Hypoplasia DiGeorge Type, Thymus Congenital Aplasia, Unilateral Megalencephaly, Unilateral Partial Lipodystro Tic Douloureux, Tics, Tinel’s syndrome, Tolosa Hunt Syn phy, Unilateral Renal Agenesis, Unstable Colon, Unverricht US 2007/01 35335 A1 Jun. 14, 2007

Disease, Unverricht-Lundborg Disease, Unverricht-Lund strom's Syndrome, Waldmann Disease, Walker-Warburg borg-Laf Disease, Unverricht Syndrome, Upper Limb— Syndrome, Wandering Spleen, Warburg Syndrome, Warm Cardiovascular Syndrome (Holt-Oram), Upper Motor Neu Antibody Hemolytic Anemia, Warm Reacting Antibody ron Disease, Upper Airway Apnea, Upper Airway Apnea, Disease, Wartenberg Syndrome, WAS. Water on the Brain, Urea Cycle Defects or Disorders, Urea Cycle Disorder Watson Syndrome, Watson-Alagille Syndrome, Water Arginase Type, Urea Cycle Disorder Arginino Succinase house-Friderichsen syndrome, Waxy Disease, WBS. Weaver Type, Urea Cycle Disorders Carbamyl Phosphate Synthetase Syndrome, Weaver-Smith Syndrome, Weber-Cockayne Dis Type, Urea Cycle Disorder Citrullinemia Type, Urea Cycle ease, Wegener's Granulomatosis, Wegener's Granulomato Disorders N-Acrtyl Glutamate Synthetase Typ, Urea Cycle sis, Weil Disease, Weil Syndrome, Weill-Marchesani, Weill Disorder OTC Type, Urethral Syndrome, Urethro-Oculo Marchesani Syndrome, Weill-Reyes Syndrome, Weismann Articular Syndrome, Uridine Diphosphate Glucuronosyl Netter-Stuhl Syndrome, Weissenbacher-Zweymuller transferase Severe Def. Type I, Urinary Tract Defects, Syndrome, Wells Syndrome, Wenckebach, Werdnig-Hoff Urofacial Syndrome, Uroporphyrinogen III cosynthase, man Disease, Werdnig-Hoffmann Disease, Werdnig-Hoff Urticaria pigmentosa, Usher Syndrome, Usher Type I, Usher mann disease, Werdnig-Hoffman Disease, Werdnig-Hoff Type II, Usher Type III, Usher Type IV. Uterine Synechiae, man Paralysis, Werlhofs Disease, Werner Syndrome, Uoporphyrinogen I-synthase, Uveitis, Uveomeningitis Syn Wernicke's (C) I Syndrome, Wernicke's aphasia, Wernicke drome, V-CJD, VACTEL Association, VACTERL Associa Korsakoff Syndrome, West Syndrome, Wet Beriberi, tion, VACTERL Syndrome, Valgus Calcaneus, Valine Tran WHCR, Whipple's Disease, Whistling face syndrome, saminase Deficiency, Valinemia, Valproic Acid, Valproate Whistling Face-Windmill Vane Hand Syndrome. White acid exposure, Valproic acid exposure, Valproic acid, Van Darier Disease. Whitnall-Norman Syndrome, Whorled Buren's Disease, Van der Hoeve-Habertsma-Waardenburg nevoid hypermelanosis, WHS, Wieacker Syndrome, Gauldi Syndrome, Variable Onset Immunoglobulin Defi Wieacher Syndrome, Wieacker-Wolff Syndrome, Wied ciency Dysgammaglobulinemia, Variant Creutzfeldt-Jakob mann-Beckwith Syndrome, Wiedemann-Rautenstrauch Disease (V-CJD), Varicella Embryopathy, Variegate Porphy Syndrome, Wildervanck Syndrome, Willebrand-Juergens ria, Vascular Birthmarks, Vascular Dementia Binswanger's Disease, Willi-Prader Syndrome, Williams Syndrome, Wil Type, Vascular Erectile Tumor, Vascular Hemophilia, Vas liams Syndrome, Williams-Beuren Syndrome, Wilms cular Malformations, Vascular Malformations of the Brain, Tumor, Wilms Tumor-Aniridia-Gonadoblastoma-Mental Vasculitis, Vasomotor Ataxia, Vasopressin-Resistant Diabe Retardation Syndrome, Wilms Tumor Aniridia Gonadoblas tes Insipidus, Vasopressin-Sensitive Diabetes Insipidus, toma Mental Retardation, Wilms Tumor-Aniridia-Geni VATER Association, Vcf syndrome, Vcfs, Velocardiofacial tourinary Anomalies-Mental Retardation Syndrome, Wilms Syndrome, VeloCardioFacial Syndrome, Venereal Arthritis, Tumor-Pseudohermaphroditism-Nephropathy, Wilms Venous Malformations, Ventricular Fibrillation, Ventricular Tumor and Pseudohermaphroditism, Wilms Tumor Septal Defects, Congenital Ventricular Defects, Ventricular Pseuodohermaphroditism-Glomerulopathy, Wilson's Dis Septal Defect, Ventricular Tachycardia, Venual Malforma ease, Winchester Syndrome, Winchester-Grossman Syn tions, VEOHD, Vermis Aplasia, Vermis Cerebellar Agen drome, Wiskott-Aldrich Syndrome, Wiskott-Aldrich Type esis, Vernal Keratoconjunctivitis, Verruca, Vertebral Anal Immunodeficiency. Witkop Ectodermal Dysplasias, Witkop Tracheoesophageal Esophageal Radial, Vertebral Ankylos Tooth-Nail Syndrome. Wittmaack-Ekbom Syndrome, WM ing Hyperostosis, Very Early Onset Huntington's Disease, Syndrome, WMS, WNS, Wohlfart-Disease, Wohlfart Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Kugelberg-Welander Disease, Wolf Syndrome, Wolf-Hir Deficiency, Vestibular Schwannoma, Vestibular Schwan schhorn Chromosome Region (WHCR), Wolf-Hirschhorn noma Neurofibromatosis, Vestibulocerebellar, Virchow's Syndrome, Wolff-Parkinson-White Syndrome, Wolff-Par Oxycephaly, Visceral Xanthogranulomatosis, Visceral Xan kinson-White syndrome, Wolff Parkinson White Syndrome, tho-Granulomatosis, Visceral myopathy-External Ophthal Wolfram Syndrome, Wolman Disease (Lysomal Acid moplegia, Visceromegaly-Umbilical Hernia-Macroglossia Lypase Deficiency), Woody Guthrie's Disease, WPW Syn Syndrome, Visual Amnesia, Vitamin A Deficiency, Vitamin drome, WPW Syndrome, Writer's Cramp, WS, WS, WS, B-1 Deficiency, Vitelline Macular Dystrophy, Vitiligo, Viti WSS, WWS, Wyburn-Mason Syndrome, Wyburn-Mason ligo Capitis, Vitreoretinal Dystrophy, VKC, VKH Syn Syndrome, X-Linked Addison's Disease, X-linked Adreno drome, VLCAD, Vogt Syndrome, Vogt Cephalosyndactyly, leukodystrophy (X-ALD), X-linked Adult Onset Spinobul Vogt Koyanagi Harada Syndrome, Vogt Koyanagi Harada bar Muscular Atrophy, X-linked Adult Spinal Muscular Syndrome, Vogt Koyanagi Harada Syndrome, Von Bech Atrophy, X-Linked Agammaglobulinemia with Growth Hor terew-Strumpell Syndrome, Von Eulenburg Paramyotonia mone Deficiency, X-Linked Agammaglobulinemia, Lym Congenita, Von Frey's Syndrome, Von Gierke Disease, Von phoproliferate X-Linked Syndrome, X-linked Cardio Hippel-Lindau Syndrome, Von Mikulicz. Syndrome, Von myopathy and Neutropenia, X-Linked Centronuclear Recklinghausen Disease, Von Willebrandt Disease, VP. Vro myopathy, X-linked Copper Deficiency, X-linked Copper lik Disease (Type II), VSD. Vulgaris Type Disorder of Malabsorption, X-Linked Dominant Conradi-Hunermann Cornification, Vulgaris Type Ichthyosis, W Syndrome, Syndrome, X-Linked Dominant Inheritance Agenesis of Waardenburg Syndrome, Waardenburg-Klein Syndrome, Corpus Callosum, X-Linked Dystonia-parkinsonism, Waardenburg Syndrome Type I (WS1), Waardenburg Syn X-Linked Ichthyosis, X-Linked Infantile Agammaglobu drome Type II (WS2), Waardenburg Syndrome Type IIA linemia, X-Linked Infantile Nectrotizing Encephalopathy, (WS2A), Waardenburg Syndrome Type IIB (WS2B), X-linked Juvenile Retinoschisis, X-linked Lissencephaly, Waardenburg Syndrome Type III (WS3), Waardenburg Syn X-linked Lymphoproliferative Syndrome, X-linked Mental drome Type IV (WS4), Waelsch's Syndrome, WAGR Com Retardation-Clasped Thumb Syndrome, X-Linked Mental plex, WAGR Syndrome, WAGR Syndrome, Waldenstroems Retardation with Hypotonia, X-linked Mental Retardation Macroglobulinemia, Waldenstrom's Purpura, Walden and Macroorchidism, X-Linked Progressive Combined Vari US 2007/01 35335 A1 Jun. 14, 2007 64 able Immunodeficiency, X-Linked Recessive Conradi nancies, Hairy Cell Leukaemia, Head and Neck Cancer, Hunermann Syndrome, X-Linked Recessive Severe Com Hepatocellular Cancer, Hereditary Breast Cancer. Histiocy bined Immunodeficiency, X-Linked Recessive Severe tosis, Hodgkin’s Disease, Human Papillomavirus, Hydatidi Combined Immunodeficiency, X-Linked Retinoschisis, form mole, Hypercalcemia, Hypopharynx Cancer, IntraCcu X-linked Spondyloepiphyseal Dysplasia, Xanthine Oxidase lar Melanoma, Islet cell cancer, Kaposi's sarcoma, Kidney Deficiency (Xanthinuria Deficiency, Hereditary), Xanthi Cancer, Langerhans-Cell-Histiocytosis, Laryngeal Cancer, nuria Deficiency, Hereditary (Xanthine Oxidase Defi Leiomyosarcoma, Leukaemia, Li-Fraumeni Syndrome, Lip ciency), Xanthogranulomatosis Generalized, Xanthoma Cancer, Liposarcoma, Liver Cancer, Lung Cancer, Lymphe Tuberosum, Xeroderma Pigmentosum, Xeroderma Pigmen dema, Lymphoma, Hodgkin’s Lymphoma, Non-Hodgkin’s tosum Dominant Type, Xeroderma Pigmentosum Type AI Lymphoma, Male Breast Cancer, Malignant-Rhabdoid-Tu XPA Classical Form, Xeroderma Pigmentosum Type B II mour-of-Kidney, Medulloblastoma, Melanoma, Merkel Cell XPB, Xeroderma Pigmentosum Type E V XPE, Xeroderma Cancer, Mesothelioma, Metastatic Cancer, Mouth Cancer, Pigmentosum Type C III XPC, Xeroderma Pigmentosum Multiple Endocrine Neoplasia, Mycosis Fungoides, Myelo Type D IV XPD, Xeroderma Pigmentosum Type F VI XPF, dysplastic Syndromes, Myeloma, Myeloproliferative Disor Xeroderma Pigmentosum Type G VII XPG, Xeroderma ders, Nasal Cancer, Nasopharyngeal Cancer, Nephroblas Pigmentosum Variant Type XP-V. Xeroderma-Talipes-and toma, Neuroblastoma, Neurofibromatosis, Nijmegen Enamel Defect, Xerodermic Idiocy, Xerophthalmia, Xerotic Breakage Syndrome. Non-Melanoma Skin Cancer, Non Keratitis, XLP, XO Syndrome, XP, XX Male Syndrome, Sex Small-Cell-Lung-Cancer-(NSCLC), Ocular Cancers, Reversal, XXXXX Syndrome, XXY Syndrome, XYY Syn Oesophageal Cancer, Oral cavity Cancer, Oropharynx Can drome, XYY Chromosome Pattern, Yellow Mutant Albi cer, Osteosarcoma, Ovarian Cancer, Pancreas Cancer, Para nism, Yellow Nail Syndrome, YKL Young Female Arteritis, nasal Cancer, Parathyroid Cancer, Parotid Gland Cancer, Yunis-Varon Syndrome, YY Syndrome, Z-E Syndrome, Z Penile Cancer, Peripheral-Neuroectodermal-Tumours, Pitu and -Protease Inhibitor Deficiency, Zellweger Syndrome, itary Cancer, Polycythemia vera, Prostate Cancer, Rare Zellweger cerebro-hepato-renal syndrome, ZES, Ziehen cancers-and-associated-disorders, Renal Cell Carcinoma, Oppenheim Disease (Torsion Dystonia), Zimmermann-La Retinoblastoma, Rhabdomyosarcoma, Rothmund-Thomson band Syndrome, Zinc Deficiency Congenital, Zinsser-Cole Syndrome, Salivary Gland Cancer, Sarcoma, Schwannoma, Engman Syndrome, ZLS, Zollinger-Ellison Syndrome. Sezary syndrome, Skin Cancer, Small Cell Lung Cancer 10. The method of any one of claims 8 or 9 wherein the (SCLC), Small Intestine Cancer, Soft Tissue Sarcoma, Spi cancer is selected from the group consisting of ABL1 nal Cord Tumours, Squamous-Cell-Carcinoma-(skin), protooncogene, AIDS Related Cancers, Acoustic Neuroma, Stomach Cancer, Synovial sarcoma, Testicular Cancer, Thy Acute Lymphocytic Leukaemia, Acute Myeloid Leukaemia, mus Cancer, Thyroid Cancer, Transitional-Cell-Cancer Adenocystic carcinoma, Adrenocortical Cancer, Agnogenic (bladder), Transitional-Cell-Cancer-(renal-pelvis-/-ureter), myeloid metaplasia, Alopecia, Alveolar soft-part sarcoma, Trophoblastic Cancer, Urethral Cancer, Urinary System Anal cancer, Angiosarcoma, Aplastic Anaemia, Astrocy Cancer, Uroplakins, Uterine sarcoma, Uterus Cancer, Vagi toma, Ataxia-telangiectasia, Basal Cell Carcinoma (Skin), nal Cancer, Vulva Cancer, Waldenstrom's-Macroglobuline Bladder Cancer, Bone Cancers, Bowel cancer, Brain Stem mia and Wilms Tumour. Glioma, Brain and CNS Tumours, Breast Cancer, CNS tumours, Carcinoid Tumours, Cervical Cancer, Childhood 14. Use of an agent capable of modulating the interaction Brain Tumours, Childhood Cancer, Childhood Leukaemia, between Beacon and a CLK in the manufacture of a medi Childhood Soft Tissue Sarcoma, Chondrosarcoma, Chorio cament for the treatment of a condition characterized by a carcinoma, Chronic Lymphocytic Leukaemia, Chronic healthy or unhealthy state, including the presence or absence Myeloid Leukaemia, Colorectal Cancers, Cutaneous T-Cell of a disorder associated with myopathy, obesity, anorexia, Lymphoma, Dermatofibrosarcoma-protuberans, Desmoplas weight maintenance, diabetes, disorders associated with tic-Small-Round-Cell-Tumour, Ductal Carcinoma, Endo mitochondrial dysfunction, genetic disorders, cancer, heart crine Cancers, Endometrial Cancer, Ependymoma, Esoph disease, inflammation, disorders associated with the immune ageal Cancer, Ewing's Sarcoma, Extra-Hepatic Bile Duct system, infertility, disease associated with the brain and/or Cancer, Eye Cancer, Eye: Melanoma, Retinoblastoma, Fal metabolic energy levels. lopian Tube cancer, Fanconi Anaemia, Fibrosarcoma, Gall 15. A composition comprising a modulation of Beacon Bladder Cancer, Gastric Cancer, Gastrointestinal Cancers, CLK interaction and one or more pharmaceutical carriers Gastrointestinal-Carcinoid-Tumour, Genitourinary Cancers, and/or diluents. Germ Cell Tumours, Gestational-Trophoblastic-Disease, Glioma, Gynaecological Cancers, Haematological Malig