CENTOGENE Report: Diagnosed cases of rare diseases at CENTOGENE January 2012 to June 2016

Elucidating the basis for the link between the clinical phenotype and At CENTOGENE we are committed to helping you with your genotype correlation, and the factors contributing to reveal disease medical needs. frequency, provide new insights into the genetics, pathophysiology and therapeutic options available for rare diseases. Analyzing samples We are pleased to present our analysis from January 2012 to from over 100 countries worldwide allows us to understand ethnic June 2016 of diagnosed cases at CENTOGENE. In that period, differences that are important for a comprehensive test interpretation. CENTOGENE has confirmed more than 21,077 cases.

With the help of our unique, multi-ethnic CENTOGENE mutation CENTOGENE’s American and European accreditations (CAP, CLIA database CentoMD® we are able to help you detecting the right and ISO) confirm our highest quality standards for diagnostic genotype/phenotype correlation as well as provide differential testing and medical reporting. diagnostic approaches.

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Samples ■ > 2000 ■ 501 – 2000 ■ 101 – 500 ■ 51 – 100 ■ < 50 June 2015 to May 2016 › Contact details CENTOGENE AG Customer Service Schillingallee 68 Phone: +49 (0)381 203 652- 222 18057 Rostock, Germany Fax: +49 (0)381 203 652-119 www.centogene.com E-Mail: [email protected]

CLIA #99D2049715 V6_August2016 Confirmed cases/carriers by disease category

Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016

OMIM Name TOTAL OMIM Name TOTAL

01. Metabolic disorders 311250 Ornithine transcarbamylase deficiency 28

TOTAL 8233 243500 Isovaleric acidemia 27

301500 Fabry Disease 2354 235200 Hemochromatosis 26

230800 Gaucher Disease 578 228000 Farber lipogranulomatosis 26

309900 Mucopolysaccharidosis II (Hunter syndrome) 565 610921 Surfactant metabolsim dysfunction, pulmonary, 3 25

232300 Glycogen storage disease II (Pompe) 377 212140 Carnitine deficiency, systemic primary 25

257220 Niemann-Pick disease, type C1 198 276700 Tyrosinemia, type I 24

253000 Mucopolysaccharidosis IVA 177 230400 Galactosemia 24

607015 Mucopolysaccharidosis Ih/s 163 236792 L-2-hydroxyglutaric aciduria 24

219700 Cystic fibrosis 134 609015 Trifunctional protein deficiency 23

250100 Metachromatic leukodystrophy 122 143890 Hypercholesterolemia, familial 22

253200 Mucopolysaccharidosis type VI (Maroteaux-Lamy) 118 272200 Multiple sulfatase deficiency 22

201910 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 117 232220 Glycogen storage disease Ib 22

245200 Krabbe disease 82 253220 Mucopolysaccharidosis VII 21

606054 Propionicacidemia 80 218030 Apparent mineralocorticoid excess 21

277900 Wilson disease 75 601847 Cholestasis, progressive familial intrahepatic, 2 21

257200 Niemann-Pick disease, type A 74 602347 Cholestasis, progressive familial intrahepatic, 3 21

252900 Mucopolysaccharidosis type IIIA (Sanfilippo A) 72 237300 Carbamoylphosphate synthetase I deficiency 21

253260 Biotinidase deficiency 59 246450 HMG-CoA lyase deficiency 21

248600 Maple syrup urine disease, type Ia 59 210210 3-Methylcrotonyl-CoA carboxylase 2 deficiency 20

230500 GM1-gangliosidosis, type I 52 272300 Sulfite oxidase deficiency 20

268800 Sandhoff disease, infantile, juvenile, and adult forms 50 261630 Hyperphenylalaninemia, BH4-deficient, C 19

259900 Hyperoxaluria, primary, type 1 49 256731 Ceroid lipofuscinosis, neuronal, 5 19

248600 Maple syrup urine disease, type Ib 48 224120 Anemia, congenital dyserythropoietic, type I 18

201475 Very long Chain acyl-CoA dehydrogenase deficiency 46 203400 Hypoaldosteronism, congenital, due to CMO I deficiency 18

219800 Cystinosis nephropathic 46 614096 Combined oxidative phosphorylation deficiency 8 18

252920 Mucopolysaccharidosis type IIIB (Sanfilippo B) 46 266150 Pyruvate carboxylase deficiency 18

266200 Pyruvate kinase deficiency 43 204200 Ceroid lipofuscinosis, neuronal, 3 18

207900 Argininosuccinic aciduria 42 607625 Niemann-pick disease, type C2 17

231680 Glutaric acidemia 42 252930 Mucopolysaccharidosis type IIIC (Sanfilippo C) 17

232600 Glycogen storage disease type V/McArdle disease 40 255120 CPT deficiency, hepatic, type IA 16

251000 Methylmalonic aciduria, mut(0) type 39 600143 Ceroid lipofuscinosis, neuronal, 8 15

204500 Ceroid lipofuscinosis, neuronal, 2 38 212065 Congenital disorder of glycosylation, type Ia 15

231670 Glutaricaciduria, type I 36 229700 Fructose-1,6-bidphosphatase deficiency 15

246900 Dihydrolipoamide dehydrogenase deficiency / MSUD III 36 176000 Porphyria, acute intermittent 15

272800 Tay-Sachs disease 34 256450 Hyperinsulinemic hypoglycemia, familial 1 15

261600 Phenylketonuria 34 306000 Glycogen storage disease, type IXa1/a2 15

252500 Mucolipidosis II alpha/beta 34 227810 Fanconi-Bickel syndrome 14

215700 Citrullinemia 34 613490 Alpha-1-antitrypsin deficiency 14

201450 Medium chain acyl-CoA dehydrogenase deficiency 32 256550 Neuraminidase deficiency 14

227650 Fanconi anemia, complementation group A 32 230000 Fucosidosis 14

232400 Glycogen storage disease III 31 203750 Alpha-methylacetoacetic aciduria 14

601780 Ceroid lipofuscinosis, neuronal, 6 30 615574 Asparagine synthetase deficiency 14

248600 Maple syrup urine disease, type II 30 256540 Galactosialidosis 14

249100 Familial Mediterranean fever, AR 29 232500 Glycogen storage disease IV 13

277400 Methylmalonic aciduria and homocystinuria, cblC type 29 610951 Ceroid lipofuscinosis, neuronal, 7 13

232200 Glycogen storage disease Ia 29 304800 Diabetes insipidus, nephrogenic 13

2 Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016

OMIM Name TOTAL OMIM Name TOTAL

606003 Transaldolase deficiency 13 222700 Lysinuric protein intolerance 6

612736 Guanidinoacetate methyltransferase deficiency 12 614924 Combined oxidative phosphorylation deficiency 12 6

253010 Mucopolysaccharidosis type IVB (Morquio) 12 136120 Fish-eye disease 6

614576 Congenital disorder of glycosylation, type IIl 12 610549 Diabetes mellitus, insulin-resistant, with acanthosis nigricans 6

125851 Maturity-onset diabetes of the young, type 2 12 201810 3-beta-hydroxysteroid dehydrogenase, type II, deficiency 6

229600 Fructose intolerance 12 614922 Combined oxidative phosphorylation deficiency 11 6

278000 Wolman disease 12 300816 Combined oxidative phosphorylation deficiency 6 6

251110 Methylmalonic aciduria, cblB type 11 615317 Multiple mitochondrial dysfunctions syndrome 6

607616 Niemann-Pick disease, type B 11 218800 Crigler-Najjar syndrome, type I 6

261750 Glycogen storage disease IXb 10 603147 Congenital disorder of glycosylation, type Ic 6

610832 Fanconi anemia, complementation group N 10 601110 Congenital disorder of glycosylation, type Id 6

609016 long-chain 3-hydroxyl-CoA dehydrogenase deficiency 10 300884 Congenital disorder of glycosylation, type Is 5

614265 Combined malonic and methylmalonic aciduria 10 271980 Succinic semialdehyde dehydrogenase deficiency 5

238600 Hyperlipoproteinemia, type 1 9 262190 Rabson-Mendenhall syndrome 5

232700 Glycogen storage disease VI 9 142680 Periodic fever, familial 5

245050 Succinyl CoA:3-oxoacid CoA transferase deficiency 9 601346 Martinez-Frias syndrome 5

224100 Anemia, dyserythropoietic congenital, type II 9 204750 2-aminoadipic 2-oxoadipic aciduria 5

602390 Hemochromatosis, type 2A 9 300559 Muscle glycogenosis 5

614082 Fanconi anemia, complementation group G 9 261680 Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency 5

614300 Hypermethioninemia due to adenosine kinase deficiency 9 609924 Aminoacylase 1 deficiency 5

241510 Hypophosphatasia, childhood 8 603467 Fanconi anemia, complementation group F 5

246200 Donohue syndrome 8 613559 Combined oxidative phosphorylation deficiency 7 5

137920 Maturity-onset diabetes of the young type 5 8 614372 Mannose-Binding Protein Deficiency 5

125850 MODY, type I 8 608540 Congenital disorder of glycosylation, type Ik 5

248190 Hypomagnesemia 5, renal, with ocular involvement 8 614307 Alpha-methylacyl-CoA racemase deficiency 5

252150 Molybdenum cofactor deficiency 8 248250 Hypomagnesemia 3, renal 5

248360 Malonyl-CoA decarboxylase deficiency 8 210200 3-Methylcrotonyl-CoA carboxylase 1 deficiency 5

3-methylglutaconic aciduria with deafness, encephalopathy, and 227646 Fanconi anemia, complementation group D2 5 614739 8 Leigh-like syndrome 227645 Fanconi anemia, complementation group C 5

252940 Mucopolysaccharidosis type IIID 8 600496 Maturity-onset diabetes of the young type 3 5

211600 Cholestasis, Progressive Familial Intrahepatic, 1 8 245349 Lacticacidemia due to PDX1 deficiency 5

251100 Methylmalonic aciduria, cblA type 7 261640 Hyperphenylalaninemia, BH4-deficient, A 4

605724 Fanconi anemia, complementation group D1 7 220110 Mitochondrial complex IV deficiency 4

600649 CPT deficiency, hepatic, type II 7 300352 Cerebral creatine deficiency syndrome 1 4

256730 Ceroid lipofuscinosis, neuronal, 1 7 607398 Glucocorticoid deficiency 2 4

613646 Methylmalonic aciduria due to transcobalamin receptor defect 7 613027 Glycogen storage disease IXc 4

258900 Orotic aciduria 7 176200 Porphyria variegata 4

613280 Hypermanganesemia with dystonia, polycythemia, and cirrhosis 7 205400 Tangier disease 4

146300 Hypophosphatasia, adult 7 248510 Mannosidosis, Beta A, Lysosomal 4

275350 Transcobalamin II deficiency 7 252011 Mitochondrial complex II deficiency 4

250940 Homocystinuria-megaloblastic anemia, cblG complementation type 7 611126 Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of 4

615440 Combined oxidative phosphorylation deficiency 17 7 609241 Schindler disease, type I, III 4

210900 Bloom syndrome 6 611719 Combined oxidative phosphorylation deficiency 5 4

613489 Congenital disorder of glycosylation, type IIj 6 222900 Sucrase-isomaltase deficiency, congenital 4

248500 Mannosidosis, alpha-, types I and II 6 609053 Fanconi anemia, complementation group I 4

612015 Congenital disorder of glycosylation, type 6 300896 Congenital disorder of glycosylation, type IIm 4

263700 Porphyria, congenital erythropoietic 6 312170 Pyruvate dehydrogenase E1-alpha deficiency 4

252650 Mucolipidosis IV 6 613327 Lipodystrophy, congenital generalized, type 4 4

3 Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016

OMIM Name TOTAL OMIM Name TOTAL

614111 Pyruvate dehydrogenase E1-beta deficiency 4 236270 Homocystinuria-Megaloblastic Anemia, Cble Complementation Type 2

613163 GABA-transaminase deficiency 4 263570 Polyglucosan body disease, adult form 2

610127 Ceroid lipofuscinosis, neuronal, 10 4 609054 Fanconi anemia, complementation group J 2

602079 Trimethylaminuria 4 614972 Cholestasis, intrahepatic, of pregnancy, 3 2

270450 Insulin-like growth factor I, resistance to 4 277410 Methylmalonic aciduria and homocystinuria, cblD type 2

610600 Hypoaldosteronism, congenital, due to CMO II deficiency 4 614616 Diarrhea type 6 2

275630 Chanarin-Dorfman syndrome 4 614857 Methylmalonic aciduria and homocystinuria, cblJ type 2

258501 3-methylglutaconic aciduria, type III 4 615182 Combined D-2- and L-2-hydroxyglutaric aciduria 2

253270 Holocarboxylase synthetase deficiency 4 608836 CPT II deficiency, lethal neonatal 2

604250 Hemochromatosis, type 3 4 603776 Hypercholesterolemia, Autosomal Dominant, 3 2 615512 Triosephosphate isomerase deficiency 3 615158 Mitochondrial complex III deficiency, nuclear type 3 2 601815 Phosphoglycerate dehydrogenase deficiency 3 265120 Surfactant metabolism dysfunction, pulmonary, 1 2

614582 Combined oxidative phosphorylation deficiency 9 3 208400 Aspartylglucosaminuria 2

606056 Congenital disorder of glycosylation, type IIb 3 234500 Hartnup disorder 2

226200 Enterokinase deficiency 3 606785 Crigler-Najjar syndrome, type II 2

607091 Congenital disorder of glycosylation, type IId 3 606812 Fumarase deficiency 2

Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta- 145980 Hypocalciuric hypercalcemia, type I 2 202010 3 Hydroxylase Deficiency 613313 Hemochromatosis, type 2B 2

614083 Fanconi anemia, complementation group L 3 146000 Hypochondroplasia 2

606176 Diabetes mellitus, permanent neonatal 3 177000 Protoporphyria, erythropoietic, autosomal recessive 2

614087 Fanconi anemia, complementation group M 3 250800 NADH-DEPENDENT METHEMOGLOBIN REDUCTASE DEFICIENCY 2

222748 Dihydropyrimidinase deficiency 3 245348 Pyruvate dehydrogenase E2 deficiency 2

615578 Combined oxidative phosphorylation deficiency 18 3 612933 Glycogen storage disease XI 2

602579 Congenital disorder of glycosylation, type Ib 3 144010 Hypercholesterolemia, Autosomal Dominant, Type B 2

615917 Combined oxidative phosphorylation deficiency 20 3 610508 Maturity-onset diabetes of the young, type VII 2

607143 Congenital disorder of glycosylation, type Ig 3 606394 Maturity-onset diabetes of the young 6 2

615596 Congenital disorder of glycosylation, type Iw 3 612379 Congenital disorder of glycosylation, type Iq 2

605814 Citrullinemia, type II, neonatal-onset 3 606762 Hyperinsulinemic Hypoglycemia, Familial, 6 2

606392 Maturity-Onset Diabetes Of The Young, Type 4 3 601665 OBESITY 2

125853 Diabetes mellitus, noninsulin-dependent / Diabetes mellitus, type II 3 250950 3-methylglutaconic aciduria, type I 2

609812 Maturity-onset diabetes of the young, type VIII 3 601410 Diabetes mellitus, transient neonatal, 1 2

261650 PEPCK deficiency, mitochondrial 3 612932 Glycogen storage disease XIII 2

616198 Combined oxidative phosphorylation deficiency 23 3 Disordered Steroidogenesis Due To Cytochrome P450 613571 1 606069 Hemochromatosis, type 4 3 Oxidoreductase Deficiency

610015 Glutamine deficiency, congenital 3 614702 Combined oxidative phosphorylation deficiency 10 1

274270 Dihydropyrimidine dehydrogenase deficiency 3 601820 Hyperinsulinemic hypoglycemia, familial, 2 1

615157 Mitochondrial complex III deficiency, nuclear type 2 3 601492 Mucopolysaccharidosis type IX 1

612874 Erythrocyte amp deaminase deficiency 3 300514 Fanconi anemia, complementation group B 1

307030 Glycerol kinase deficiency 3 203500 Alkaptonuria 1

Hypermethioninemia with deficiency of S-adenosylhomocysteine 266500 Refsum disease 1 613752 3 hydrolase 261740 Glycogen storage disease of heart, lethal congenital 1

616095 Monocarboxylate transporter 1 deficiency 3 610003 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 1

607765 Bile acid synthesis defect, congenital, 1 3 125800 Diabetes Insipidus, Nephrogenic, Autosomal 1

219500 Cystathioninuria 3 611521 Tyrosine kinase 2 deficiency 1

608104 Congenital disorder of glycosylation, type Ih 3 608776 Congenital disorder of glycosylation, type Il 1

603471 Citrullinemia, Type Ii, Adult-Onset 3 606391 maturity-onset diabetes of the young 1

103050 Adenylosuccinase deficiency 3 252900 Mucopolysaccharidisis type IIIA (Sanfilippo A) 1

614921 Congenital disorder of glycosylation, type It 2 143880 Hypercalcemia, infantile 1

4 Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016

OMIM Name TOTAL OMIM Name TOTAL

237310 N-acetylglutamate synthase deficiency 1 232800 Glycogen storage disease VII 1

Merrf Syndrome / Myoclonic epilepsy associated with ragged-red 300438 17-beta-hydroxysteroid dehydrogenase X deficiency 1 545000 1 fibers 261670 Glycogen storage disease X 1

607906 Congenital disorder of glycosylation, type Ii 1 02. Neurological disorders

222745 2,4-Dienoyl-Coa Reductase 1 1 TOTAL 5083

610768 Congenital disorder of glycosylation, type Im 1 613254 Tuberous sclerosis-2 131

238700 Hyperlysinemia 1 253300 Spinal muscular atrophy-1 84

Chronic granulomatous disease, autosomal, due to deficiency of 208900 Ataxia-telangiectasia 78 233690 1 CYBA 182601 Spastic paraplegia 4, autosomal dominant 73

219750 Cystinosis, ocular nonnephropathic 1 310200 Duchenne muscular dystrophy 65

611881 Glycogen storage disease XII 1 300100 Adrenoleukodystrophy 62

276600 Tyrosinemia, type II 1 256000 Leigh syndrome 62

201470 Acyl-CoA dehydrogenase, short-chain, deficiency 1 256030 Nemaline myopathy 2, autosomal recessive 59

609826 Hypophosphatemic rickets with hypercalciuria 1 108500 Episodic ataxia, type 2 58

266130 Glutathione synthetase deficiency 1 604360 Spastic paraplegia 11, autosomal recessive 56

614962 Leptin deficiency 1 254090 Ullrich congenital muscular dystrophy 55

600901 Fanconi anemia, complementation group E 1 607855 Muscular dystrophy, congenital merosin-deficient 1A 50

613951 Fanconi anemia, complementation group P 1 255700 Myotonia congenita, recessive 50

610198 3-methylglutaconic aciduria, type 5 1 610217 Neurodegeneration with brain iron accumulation 2B 48

252605 Mucolipidosis III gamma 1 607208 Dravet syndrome 48

614105 Methylmalonate semialdehyde dehydrogenase deficiency 1 191100 Tuberous sclerosis-1 45

614947 Combined oxidative phosphorylation deficiency 15 1 610743 Spinocerebellar ataxia, autosomal recessive 8 45

200100 Abetalipoproteinemia 1 252010 Mitochondrial complex I deficiency 43

Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase 600116 Parkinson disease, juvenile, type 2 41 202110 1 Deficiency 117000 Central core disease 35

212138 Carnitine-acylcarnitine translocase deficiency 1 614615 Joubert syndrome 17 34

602485 Hyperinsulinemic hypoglycemia, familial, 3 1 143100 Huntington disease 34

214700 Diarrhea 1, secretory chloride, congenital 1 270550 Autosomal recessive spastic ataxia of Charlevoix-Saguenay 34

300770 Surfactant metabolism dysfunction, pulmonary, 4 1 266100 Epilepsy, pyridoxine-dependent 34

Mitochondrial Complex V (ATP synthase) deficiency, mitochondrial 216550 Cohen syndrome 34 516070 1 type 2 253601 Muscular dystrophy, limb-girdle, type 2B 33

231530 3-hydroxyacyl-CoA dehydrogenase deficiency 1 608099 Muscular dystrophy, limb-girdle, type 2D 33

615084 Mitochondrial dna depletion syndrome 11 1 160900 Myotonic dystrophy 1 31

241500 Hypophosphatasia, infantile 1 607259 Spastic paraplegia 7, autosomal recessive 30

Mitochondrial DNA depletion syndrome 9 (encephalomyopathic 218340 Temtamy syndrome 29 245400 1 type with methylmalonic aciduria) 610181 Aicardi-Goutieres syndrome 2 29

613370 Maturity-onset diabetes of the young, type 10 1 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine- 607483 27 616277 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 1 responsive encephalopathy type 2)

613375 Maturity-onset diabetes of the young, type 11 1 253600 Muscular dystrophy, limb-girdle, type 2A 27

611182 Congenital disorder of glycosylation, type IIh 1 607155 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 27

616329 Maturity-onset diabetes of the young, type 13 1 105210 Familial transthyretin amyloidosis 27

602014 Hypomagnesemia 1, intestinal 1 610188 Joubert syndrome 5 27

247100 Urbach-Wiethe disease 1 145600 Malignant hyperthermia susceptibility 1 27

230350 Galactose epimerase deficiency 1 603896 Leukoencephaly with vanishing white matter 27

300934 Congenital disorder of glycosylation, type Iy 1 604403 Epilepsy, generalized, with febrile seizures plus, type 2 27

202200 Glucocorticoid Deficiency 1 1 221820 Hereditary diffuse leukoencephalopathy with spheroids 26

606824 Glucose/galactose malabsorption 1 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 26

264300 Pseudohermaphroditism, male, with gynecomastia 1 256600 Infantile neuroaxonal dystrophy 1 26

5 Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016

OMIM Name TOTAL OMIM Name TOTAL

Mitochondrial DNA depletion syndrome 13 (encephalomyopathic 607060 Parkinson disease 8 15 615471 25 type) 608629 Joubert syndrome 3 15

229300 Friedreich ataxia 25 213700 Cerebrotendinous xanthomatosis 15

158810 Bethlem myopathy 1 25 606777 GLUT1 deficiency syndrome 1 15

300624 Fragile X mental retardation syndrome 25 610333 Aicardi-Goutieres syndrome 4 15

271900 Canavan disease 25 614562 Mental retardation, autosomal dominant 12 15

214100 Zellweger syndrome 24 149400 Hyperekplexia, hereditary 1, autosomal dominant or recessive 15

209850 autism 24 121200 Seizures, benign neonatal, 1 14

270700 Spastic paraplegia 15, autosomal recessive 23 600224 Spinocerebellar ataxia 5 14

602481 Migraine, familial hemiplegic, 2 23 604187 Spastic paraplegia 10, autosomal dominant 14

300376 Becker muscular dystrophy 23 249900 Metachromatic leukodystrophy due to SAP-b deficiency 14

615286 Mental retardation, autosomal recessive 36 23 302800 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 14

608033 Infection-induced acute encephalopathy-3 22 615905 Epileptic encephalopathy, early infantile, 25 14

203700 Mitochondrial DNA depletion syndrome 4A (Alpers type) 21 254300 Myasthenic syndrome, congenital, 10 13

604369 Salla disease 21 277470 Pontocerebellar hypoplasia type 2A 13

612016 Spinocerebellar ataxia, autosomal recessive 9 21 251880 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 13

615030 Spastic paraplegia 56, autosomal recessive 21 613723 Muscular dystrophy, limb-girdle, type 2Q 13

606658 Spinocerebellar ataxia 15 21 170400 Hypokalemic periodic paralysis, type 1 13

Myasthenic syndrome, congenital, associated with acetylcholine 104300 Alzheimer Disease 13 608931 21 receptor deficiency 616211 Epileptic encephalopathy, early infantile, 28 13

605361 Spinocerebellar ataxia 14 21 213300 Joubert syndrome 1 13

609260 Charcot-Marie-Tooth disease, type 2A2 21 614895 Charcot-Marie-Tooth disease, type 4F 13

Dystonia, DOPA-responsive, with or without Endplate acetylcholinesterase deficiency / Congenital myasthenic 128230 21 603034 13 hyperphenylalaninemia syndrome type 1C

612953 Parkinson disease 14 20 256800 Insensitivity to pain, congenital, with anhidrosis 13

612319 Spastic paraplegia 35, autosomal recessive 20 615636 Joubert syndrome 21 13

614862 Peroxisome biogenesis disorder 4A (Zellweger) 20 602473 Ethylmalonic encephalopathy 13

613721 Epileptic encephalopathy, early infantile, 11 20 615290 Spinal muscular atrophy, lower extremity-predominant, 2, AD 12

605407 Segawa syndrome, recessive 19 603563 Spastic paraplegia 8, autosomal dominant 12

270200 Sjogren-Larsson syndrome 19 614859 Peroxisome biogenesis disorder 3A (Zellweger) 12

602629 Dystonia 6, torsion 19 256810 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 12

118220 Charcot-Marie-Tooth disease, type 1A 19 256850 Giant axonal neuropathy-1 12

203450 Alexander disease 19 300672 Epileptic encephalopathy, early infantile, 2 12

128200 Episodic kinesigenic dyskinesia 1 19 220111 Leigh syndrome, French-Canadian type 12

159900 Dystonia, myoclonic 18 613402 Epileptic encephalopathy, early infantile, 10 12

606002 Spinocerebellar ataxia 1, autosomal recessive 17 608807 Muscular dystrophy, limb-girdle, type 2J 11

162500 Neuropathy, recurrent, with pressure palsies 17 270800 Spastic paraplegia 5A, autosomal recessive 11

614465 Joubert syndrome 16 17 604286 Muscular dystrophy, limb-girdle, type 2E 11

601596 Charcot-Marie-Tooth disease, type 4C 17 610250 Spastic paraplegia 31, autosomal dominant 11

602668 Myotonic dystrophy 2 16 Mitochondrial recessive ataxia syndrome (includes SANDO and 607459 11 604320 Spinal muscular atrophy, distal, autosomal recessive 1 16 SCAE)

604121 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 16 Leukodystrophy, hypomyelinating, 7, with or without oligodontia 607694 11 612285 Joubert syndrome 9 16 and/or hypogonadotropic hypogonadism

604004 Megalencephalic leukoencephalopathy with subcortical cysts 1 16 128100 Dystonia 1, torsion 11

Cerebellar ataxia, mental retardation, and dysequilibrium Leukodystrophy, hypomyelinating, 8, with or without oligodontia 224050 16 614381 11 syndrome and/or hypogonadotropic hypogonadism

608768 Spinocerebellar ataxia 8 15 613192 Mental retardation, autosomal recessive 13 11

160800 Myotonia congenita, dominant 15 303600 Coffin-Lowry syndrome 11 214110 Peroxisome biogenesis disorder 2A (Zellweger) 10

6 Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016

OMIM Name TOTAL OMIM Name TOTAL

614298 Neurodegeneration with brain iron accumulation 4 10 157640 Progressive external ophthalmoplegia, autosomal dominant 8

141500 Migraine, familial hemiplegic, 1 10 616204 Spinocerebellar ataxia, autosomal recessive 18 8

312080 Pelizaeus-Merzbacher disease 10 611093 Mental retardation, autosomal recessive 7 8

613158 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 10 300000 Opitz GBBB syndrome, X-linked 8

605909 Parkinson disease 6, early onset 10 264470 Peroxisomal acyl-CoA oxidase deficiency 8

614876 Peroxisome biogenesis disorder 8A, (Zellweger) 10 612164 Epileptic encephalopathy, early infantile, 4 8

255800 Schwartz-Jampel syndrome, type 1 10 612438 Leukodystrophy, hypomyelinating, 6 8

612952 Aicardi-Goutieres syndrome 5 10 613720 Epileptic encephalopathy, early infantile, 7 8

Frontotemporal lobar degeneration with ubiquitin-positive 170500 Hyperkalemic periodic paralysis, type 2 8 607485 10 inclusions 609304 Epileptic encephalopathy, early infantile, 3 8

307000 Hydrocephalus, due to congenital stenosis of aqueduct of Sylvius 10 614959 Epileptic encephalopathy, early infantile, 14 8

615828 Mental retardation, autosomal dominant 24 10 614618 Hyperekplexia 3 8

612233 Leukodystrophy, hypomyelinating, 4 10 300322 Lesch-Nyhan syndrome 8

158900 Facioscapulohumeral muscular dystrophy 1 10 Leukodystrophy, hypomyelinating, 2 /Pelizaeus-Merzbacher-like 608804 8 613206 Spastic paraplegia 44, autosomal recessive 9 disease, 1

610246 Spinocerebellar ataxia 28 9 616155 Charcot-Marie-Tooth disease, axonal, type 2S 8

613204 Muscular dystrophy, congenital, due to ITGA7 deficiency 9 Muscular dystrophy-dystroglycanopathy (congenital with brain 236670 7 164300 Oculopharyngeal muscular dystrophy 9 and eye anomalies), type A, 1 612539 Spastic paraplegia 42, autosomal dominant 9 610357 Spastic paraplegia 30, autosomal recessive 7 311200 Oral-facial-digital syndrome 1 9 Walker-Warburg syndrome / Muscular dystrophy- 615493 Mental retardation, autosomal recessive 37 9 253800 dystroglycanopathy (congenital with brain and eye anomalies), 7 type A4 300868 Multiple congenital anomalies-hypotonia-seizures syndrome 2 9

610245 Spinocerebellar ataxia 23 9 603041 Mitochondrial DNA depletion syndrome 1 (MNGIE type) 7

275900 Spastic paraplegia 20, autosomal recessive 9 611307 Muscular dystrophy, limb-girdle, type 2L 7

226670 Muscular dystrophy with epidermolysis bullosa simplex 9 614887 Peroxisome biogenesis disorder 13A (Zellweger) 7

182600 Spastic paraplegia 3A, autosomal dominant 9 613908 Spinocerebellar ataxia 35 7

214400 Charcot-Marie-Tooth disease, type 4A 9 604805 Spastic paraplegia 12, autosomal dominant 7

300049 Heterotopia, periventricular / X-linked periventricular heterotopia 9 183086 Spinocerebellar ataxia 6 7

609311 Charcot-Marie-Tooth disease, type 4H 9 614678 Pontocerebellar hypoplasia, type 1B 7

530000 Kearns-Sayre Syndrome 9 Muscular dystrophy-dystroglycanopathy with brain and eye 253280 7 613287 Charcot-Marie-Tooth disease, axonal, type 2N 9 anomalies, type A3

128235 Dystonia 12 9 310400 Myotubular myopathy, X-linked 7

Epilepsy, focal, with speech disorder and with or without mental 614872 Peroxisome biogenesis disorder 7A (Zellweger) 7 245570 9 retardation Polycystic lipomembranous osteodysplasia with sclerosing 221770 7 612126 GLUT1 deficiency syndrome 2 9 leukoencephalopathy / Nasu-Hakola disease

Ataxia, early-onset, with oculomotor apraxia and Progressive external ophthalmoplegia with mitochondrial DNA 208920 9 613077 7 hypoalbuminemia deletions, autosomal dominant, 5

105400 Amyotrophic lateral sclerosis 1 9 161800 Myopathy, nemaline, 3 7

Mental retardation, X-linked 3 (methylmalonic acidemia and 614483 Porencephaly 2 7 309541 8 homocysteinemia, cblX type ) Leukoencephalopathy with brain stem and spinal cord involvement 611105 7 234200 Neurodegeneration with brain iron accumulation 1 8 and lactate elevation

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 / 614228 Charcot-Marie-Tooth disease, axonal, type 20 7 609308 8 Muscular dystrophy limb-girdle, type 2K 118200 Charcot-Marie-Tooth disease, type 1B 7 225753 Pontocerebellar hypoplasia type 4 8 300088 Epileptic encephalopathy, early infantile, 9 7

Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And 601382 Charcot-Marie-Tooth disease, type 4B1 7 612780 8 Electrolyte Imbalance 200150 Choreoacanthocytosis 7

300659 Mental retardation, X-linked 93 8 300804 Joubert syndrome 10 7

253700 Muscular dystrophy, limb-girdle, type 2C 8 169500 Leukodystrophy, adult-onset, autosomal dominant 7

7 Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016

OMIM Name TOTAL OMIM Name TOTAL

615369 Epileptic encephalopathy, childhood-onset 7 605751 Seizures, benign familial infantile, 2 5

118210 Charcot-Marie-Tooth disease, type 2A1 7 164500 Spinocerebellar ataxia 7 5

613205 Muscular dystrophy, congenital 6 616116 Mental retardation, autosomal recessive 46 5

300436 Mental retardation, X-linked 46 6 614831 Spinocerebellar ataxia, autosomal recessive 13 5

609452 Myopathy, myofibrillar, 4 6 614198 Myasthenic syndrome, acetazolamide-responsive 5

615516 Mental retardation, autosomal recessive 38 6 312870 Simpson-Golabi-Behmel syndrome, type 1 5

614879 Peroxisome biogenesis disorder 9B 6 615643 Neurodegeneration with brain iron accumulation 6 5

Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, 610687 Nemaline Myopathy 7 5 300643 6 X-Linked 614886 Peroxisome biogenesis disorder 12A (Zellweger) 5 606693 Parkinson disease 9 6 Muscular dystrophy-dystroglycanopathy (congenital with mental 608840 5 223900 Neuropathy, hereditary sensory and autonomic, type III 6 retardation), type B, 6

300912 Mental retardation, X-linked 98 6 604432 Spinocerebellar ataxia 11 5

255200 Myopathy, centronuclear 6 300534 Mental retardation, X-linked, syndromic, Claes-Jensen type 5

607136 Spinocerebellar ataxia 17 6 605259 Spinocerebellar ataxia 13 5

609340 Spastic paraplegia 28, autosomal recessive 6 156200 Mental retardation, autosomal dominant 1 5

276880 Urocanase deficiency 6 601455 Charcot-Marie-Tooth disease, type 4D 5

601419 Myopathy, myofibrillar, 1 6 605589 Charcot-Marie-Tooth disease, type 2B2 5

609524 Myopathy, myofibrillar, 5 6 Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and 601338 5 200990 Joubert syndrome 12 6 sensorineural hearing loss

205100 Amyotrophic lateral sclerosis 2, juvenile 6 216360 Coach syndrome 5 314250 Dystonia-Parkinsonism, X-linked 5 Mental retardation and microcephaly with pontine and cerebellar 300749 6 hypoplasia 614820 Alternating hemiplegia of childhood 2 5

254800 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 6 Amyotrophic lateral sclerosis 14, with or without frontotemporal 613954 5 dementia 611942 Epilepsy, Childhood Absence, Susceptibility To, 6 6 601472 Charcot-Marie-Tooth disease, type 2D 5 604233 Epilepsy, generalized, with febrile seizures plus, type 1 6 607628 Epilepsy, Idiopathic Generalized, Susceptibility To, 11 5 613925 Megalencephalic leukoencephalopathy with subcortical cysts 2A 6 243000 Insensitivity to pain, channelopathy-associated 5 604563 Charcot-Marie-Tooth disease, type 4B2 6 612199 Cerebroretinal microangiopathy with calcifications and cysts 5 607822 Alzheimer disease, type 3 6 611560 Joubert syndrome 7 5 218000 Agenesis of the corpus callosum with peripheral neuropathy 6 607678 Charcot-Marie-Tooth Disease, Demyelinating, Type 1D 5 611277 Generalized Epilepsy With Febrile Seizures Plus, Type 3 6 160120 Episodic ataxia/myokymia syndrome 5 614860 Dystonia 23 6 610329 Aicardi-Goutieres syndrome 3 5 614558 Epileptic encephalopathy, early infantile, 13 6 615511 Myopathy due to myoadenylate deaminase deficiency 4 613863 Epilepsy, generalized, with febrile seizures plus, type 7 6 Muscular dystrophy-dystroglycanopathy (congenital with brain Myasthenic syndrome, congenital, 11, associated with 615249 4 616326 5 and eye anomalies), type A, 12 acetylcholine receptor deficiency Spastic tetraplegia, thin corpus callosum and progressive 613068 Neurodegeneration due to cerebral folate transport deficiency 5 600229 4 microcephaly 616127 Spinocerebellar ataxia, autosomal recessive 17 5 608236 Slowed nerve conduction velocity, AD 4 168300 Paramyotonia congenita 5 277580 Waardenburg syndrome, type 4A 4 109150 Spinocerebellar ataxia 3 5 Muscular dystrophy-dystroglycanopathy (congenital with or 606612 4 254210 Myasthenic syndrome, congenital, associated with episodic apnea 5 without mental retardation), type B, 5 601287 Muscular dystrophy, limb-girdle, type 2F 5 614203 Parkinson disease 17 4 612020 Spastic paraplegia 39, autosomal recessive 5 614920 Peroxisome biogenesis disorder 14B 4 605355 Nemaline myopathy 5, Amish type 5 615530 Parkinson disease 20, early-onset 4 601462 Myasthenic syndrome, slow-channel congenital 5 180860 Silver-Russell syndrome 4 300894 Neurodegeneration with brain iron accululation 5 5 611091 Mental retardation, autosomal recessive 5 4 194050 Williams-Beuren syndrome 5 183090 Spinocerebellar ataxia 2 4 117210 Spinocerebellar ataxia 31 5 606072 Rippling muscle disease 4

8 Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016

OMIM Name TOTAL OMIM Name TOTAL

606324 Parkinson disease 7, autosomal recessive early-onset 4 613135 Parkinsonism-dystonia, infantile 3

611523 Pontocerebellar hypoplasia, type 6 4 615809 Pontocerebellar hypoplasia, type 9 3

300387 Mental retardation, X-linked 63 4 Muscular dystrophy-dystroglycanopathy (congenital with brain 613150 3 302500 pinocerebellar ataxia, X-linked 1 4 and eye anomalies), type A, 2

255110 Myopathy due to CPT II deficiency 4 168601 Parkinson disease 1 3

309530 Mental retardation, X-linked 1 4 Muscular dystrophy-dystroglycanopathy (congenital with brain 613153 3 270685 Spastic paraplegia 17, autosomal dominant 4 and eye anomalies), type A, 5

600334 Tibial muscular dystrophy, tardive 4 615829 Xia-Gibbs syndrome 3

613662 Mitochondrial DNA depletion syndrome 4B (MNGIE type) 4 Muscular dystrophy-dystroglycanopathy (congenital with mental 613155 3 retardation), type B, 1 Muscular dystrophy-dystroglycanopathy (congenital with brain 615287 4 and eye anomalies), type A, 13 601954 Muscular dystrophy, limb-girdle, type 2G 3

255995 Native american myopathy 4 614882 Peroxisome biogenesis disorder 10A (Zellweger) 3

609634 Migraine, familial hemiplegic, 3 4 608930 Myasthenic syndrome, fast-channel congenital 3

611588 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 4 300928 Mental retardation, X-linked 101 3

300354 Mental retardation, X-linked, syndromic 15 (Cabezas type) 4 615386 Spinocerebellar ataxia, autosomal recessive 14 3

615033 Spastic paraplegia 54, autosomal recessive 4 300850 Mental retardation, X-linked 90 3

615802 Mental retardation, autosomal recessive 42 4 255310 Myopathy, congenital, with fiber-type disproportion 3

118800 Paroxysmal nonkinesigenic dyskinesia 4 609284 Nemaline myopathy 1, autosomal dominant or recessive 3

609583 Joubert syndrome 4 4 611302 Spastic ataxia 2, autosomal recessive 3

608443 Mental retardation, autosomal recessive 3 4 613157 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 3

145900 Dejerine-Sottas disease 4 607596 Pontocerebellar Hypoplasia, Type 1A 3

612999 Emery-Dreifuss muscular dystrophy 5, autosomal dominant 4 613744 Spastic paraplegia 51, autosomal recessive 3

606889 Alzheimer disease, type 4 4 607346 Spinocerebellar ataxia 19 3

604364 Epilepsy, familial focal, with variable foci 4 614866 Peroxisome biogenesis disorder 5A (Zellweger) 3

614115 Cortical malformations, occipital 4 609307 Spinocerebellar ataxia 27 3

Cerebellar ataxia, mental retardation, and dysequilibrium 614870 Peroxisome biogenesis disorder 6A (Zellweger) 3 610185 4 syndrome 2 117360 Spinocerebellar ataxia 29, congenital nonprogressive 3

614607 Mental retardation, autosomal dominant 14 4 607669 Spastic paraplegia 61, autosomal recessive 3

Cerebellar ataxia, mental retardation, and dysequilibrium Mitochondrial DNA depletion syndrome 5 (encephalomyopathic 615268 4 612073 3 syndrome 4 with methylmalonic aciduria)

606071 Hereditary motor and sensory neuropathy, type IIc 4 614053 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 3

603513 Cerebral palsy, spastic quadriplegic, 1 4 615637 Mental retardation, autosomal recessive 41 3

615859 Early infantile epileptic encephalopathy 4 248900 Spastic paraplegia-21, autosomal recessive 3 613477 Epileptic encephalopathy, early infantile, 5 4 615356 Muscular dystrophy, limb-girdle, type 2S 3 604168 Congenital cataracts, facial dysmorphism, and neuropathy 4 300653 Phosphoglycerate kinase 1 deficiency 3

608323 Charcot-Marie-Tooth disease, dominant intermediate C 4 160150 Myopathy, centronuclear 1 3

261515 D-bifunctional protein deficiency 4 616867 Spinal muscular atrophy with congenital bone fractures 2 3

Amyotrophic lateral sclerosis 6, autosomal recessive, with or 611705 Myopathy, early-onset, with fatal cardiomyopathy 3 608030 4 without frontotemporal dementia 616281 Mental retardation, autosomal recessive 49 3

600274 Dementia, frontotemporal 4 613265 Waardenburg syndrome, type 4B 3

300321 FG syndrome 2 4 613811 Pontocerebellar hypoplasia type 2D 3

615761 Mental retardation, autosomal dominant 23 4 303350 Spastic paraplegia 1, X-linked 3

300623 Fragile X tremor/ataxia syndrome 4 Myasthenic syndrome, congenital, 8, with pre- and postsynaptic 615120 3 105830 Angelman syndrome 4 defects

603415 Hereditary sensory neuropathy type IID 4 254130 Miyoshi muscular dystrophy 1 3

613728 Spinocerebellar ataxia, autosomal recessive 10 3 615803 Pontocerebellar hypoplasia, type 10 3

607458 Spinocerebellar ataxia 18 3 614373 Amyotrophic lateral sclerosis 16, juvenile 3

182290 Smith-Magenis syndrome 3 605375 Epilepsy, nocturnal frontal lobe, 3 3

9 Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016

OMIM Name TOTAL OMIM Name TOTAL

613641 Charcot-Marie-Tooth disease, recessive intermediate, B 3 300799 Mental Retardation, X-Linked, Syndromic, Raymond Type 2

Cerebellar ataxia and mental retardation with or without 614116 Neuropathy, hereditary sensory, type IE 2 613227 3 quadrupedal locomotion 3 607641 Neuronopathy, Distal Hereditary Motor, Type Viib 2

Cerebellar atrophy, visual impairment, and psychomotor 606688 Prion disease with protracted course 2 616875 3 retardation 300919 X-linked mental retardation-99 2

607677 Charcot-Marie-Tooth disease, type 2I 3 300243 Mental Retardation, X-Linked, Syndromic, Christianson Type 2

277460 Ataxia with isolated vitamin E deficiency 3 607801 Muscular dystrophy, limb-girdle, type IC 2

616056 Epileptic encephalopathy, early infantile, 26 3 605820 Nonaka myopathy 2

260600 Leukodystrophy, hypomyelinating, 3 3 260300 Parkinson disease 15, autosomal recessive 2

616488 Hereditary sensory and autonomic neuropathy type 8 3 602771 Rigid Spine Muscular Dystrophy 1 2 614188 Craniosynostosis and dental anomalies 3 614807 Myopathy, centronuclear, 4 2

615846 Aicardi-Goutieres syndrome 7 3 300143 Mental Retardation, X-Linked 21 2

615073 Dystonia 25 3 608097 Periventricular heterotopia with microcephaly 2

609033 Ataxia, posterior column, with retinitis pigmentosa 3 611067 Spinal muscular atrophy, distal, autosomal recessive, 4 2

614340 Mental retardation, autosomal recessive 27 3 300699 Mental Retardation, X-Linked, Syndromic, Wu Type 2

236600 Hydrocephalus, nonsyndromic, autosomal recessive 1 3 610042 Pitt-Hopkins like syndrome 1 2

127000 Kenny-Caffey syndrome, type 2 3 108600 Spastic ataxia 1, autosomal dominant 2

615219 Hydrocephalus, nonsyndromic, autosomal recessive 2 3 300706 Mental retardation, X-linked syndromic, Turner type 2

Congenital muscular dystrophy-dystroglycanopathy with brain and 616282 Spastic paraplegia 73, autosomal dominant 2 614830 3 eye anomalies type A8 253400 Spinal muscular atrophy-3 2

616139 Epileptic encephalopathy, early infantile, 27 3 615851 Pontocerebellar hypoplasia, type 2E 2

615763 Cortical dysplasia, complex, with other brain malformations 5 3 181430 Scapuloperoneal syndrome, myopathic type 2

Hypomyelination with brainstem and spinal cord involvement and 607454 spinocerebellar ataxia 21 2 615281 3 leg spasticity Muscular dystrophy-dystroglycanopathy (congenital with brain 613154 2 616140 Leukodystrophy, hypomyelinating, 9 3 and eye anomalies), type A, 6

200990 Acrocallosal syndrome 3 614369 Peripheral neuropathy, myopathy, hoarseness, and hearing loss 2

160500 Liang distal myopathy 3 614455 Charcot-Marie-Tooth disease, dominant intermediate E 2

300495 Autism, Susceptibility To, X-Linked 2 3 614652 Coenzyme Q10 deficiency, primary, 3 2

601098 Charcot-Marie-Tooth disease, type 1C 3 615075 Mental retardation, autosomal dominant 19 2

614436 Charcot-Marie-Toothe disease, axonal, type 2P 3 254780 Epilepsy, progressive myoclonic 2A (Lafora) 2

607734 Charcot-Marie-Tooth disease, type 1F 3 612269 Epilepsy, Childhood Absence, Susceptibility To, 5 2

615833 Early infantile epileptic encephalopathy type 21 3 137440 Gerstmann-Straussler disease 2

614255 Mental retardation, autosomal dominant 9 3 Mental retardation and distinctive facial features with or without 616789 2 616490 Joubert syndrome 23 3 cardiac defects

609446 Generalized epilepsy and paroxysmal dyskinesia 3 254780 Epilepsy, progressive myoclonic 2B (Lafora) 2

613940 Epilepsy, hearing loss, and mental retardation syndrome 3 614104 Mental retardation, autosomal dominant 7 2

310300 Emery-Dreifuss muscular dystrophy 1, X-linked 3 607624 Griscelli syndrome, type 2 2

615010 Aicardi-Goutieres syndrome 6 3 226750 Kohlschutter-Tonz syndrome 2

300803 Mental retardation, X-linked 97 2 254900 Epilepsy, progressive myoclonic 4, with or without renal failure 2

300802 Mental retardation, X-linked 96 2 615282 Cortical dysplasia, complex, with other brain malformations 2 2

271245 Spinocerebellar ataxia, infantile-onset 2 614417 Epilepsy, familial temporal lobe, 5 2

300958 Mental retardation, X-linked 102 2 123400 Creutzfeldt-Jakob disease 2

155310 Visceral myopathy 2 308350 Epileptic encephalopathy, early infantile, 1 2

312920 Spastic paraplegia 2, X-linked 2 616268 Mental retardation, autosomal dominant 2

603516 Spinocerebellar ataxia 10 2 615217 Ataxia-oculomotor apraxia 3 2

313200 Spinal and bulbar muscular atrophy of Kennedy 2 612621 Mental retardation, autosomal dominant 5 2

300271 Mental retardation, X-linked 72 2 606595 Charcot-Marie-Tooth disease, axonal, type 2F 2

610244 Spastic paraplegia 33, autosomal dominant 2 607426 Coenzyme Q10 deficiency, primary, 1 2

10 Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016

OMIM Name TOTAL OMIM Name TOTAL

613722 Epileptic encephalopathy, early infantile, 12 2 606159 Neurodegeneration with brain iron accumulation 3 1

616366 Epileptic encephalopathy, early infantile, 32 2 164400 Spinocerebellar ataxia 1 1

612998 Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2 Spastic Paraplegia and Psychomotor Retardation with or without 616756 1 128101 Dystonia 4, torsion, autosomal dominant 2 Seizures

607831 Charcot-Marie-Tooth disease, axonal, type 2K 2 233400 Perrault syndrome 1 1

Corpus callosum, agenesis of, with mental retardation, ocular 202370 Peroxisome biogenesis disorder 2B 1 300472 2 coloboma and micrognathia 604326 Spinocerebellar ataxia 12 1

612100 Autism susceptibility 15 2 614229 Spinocerebellar ataxia, autosomal recessive 11 1

612067 Dystonia 16 2 193510 Waardenburg syndrome, type 2A 1

613345 Hypokalemic periodic paralysis, type 2 2 615528 Parkinson disease 19, juvenile-onset 1

612577 Amyotrophic lateral sclerosis 11 2 614508 Mirror movements 2 1

600737 Inclusion body myopathy, autosomal recessive 2 159001 Muscular dystrophy, limb-girdle, type 1B 1

601887 Malignant hyperthermia susceptibility 5 2 609285 Nemaline myopathy 4, autosomal dominant 1

611228 Charcot-Marie-Tooth disease, type 4J 2 605280 Spastic paraplegia 13, autosomal dominant 1

Mental retardation with language impairment and with or without 614409 Spastic paraplegia 46, autosomal recessive 1 613670 2 autistic features Progressive External Ophthalmoplegia With Mitochondrial Dna 609283 1 225750 Aicardi-Goutieres syndrome 1, dominant and recessive 2 Deletions, Autosomal Dominant, 2

615074 Mental retardation, autosomal dominant 18 2 616521 Mental retardation, autosomal dominant 39 1

615025 Charcot-Marie-Tooth disease, axonal, type 2Q 2 603511 Muscular dystrophy, limb-girdle, type 1E 1

612716 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 2 158600 Spinal muscular atrophy, lower extremity-predominant 1, AD 1

118700 Chorea, Benign Hereditary 2 600795 Dementia, familial, nonspecific 1

613970 Mental retardation, autosomal dominant 6 2 616355 Mental Retardation, Autosomal Dominant 35 1

614173 Joubert syndrome 13 2 614609 Mental retardation, autosomal dominant 16 1

614424 Joubert syndrome 14 2 600512 Epilepsy, familial temporal lobe, 1 1

614249 Mental retardation, autosomal recessive 18 2 607681 Epilepsy, Childhood Absence, Susceptibility To, 2 1

300852 Mental retardation, X-linked 88 1 602433 Amyotrophic lateral sclerosis 4, juvenile 1

201300 Neuropathy, hereditary sensory and autonomic, type II 1 181350 Emery-Dreifuss muscular dystrophy 2 1

614067 Spastic paraplegia 52, autosomal recessive 1 614654 Coenzyme Q10 deficiency, primary, 5 1

Mental retardation, stereotypic movements, epilepsy, and/or 614113 Mental retardation, autosomal dominant 2 1 613443 1 cerebral malformations 616280 Charcot-Marie-Tooth disease, axonal, type 2U 1

168605 Perry syndrome 1 211530 Brown-Vialetto-Van Laere syndrome 1 1

614885 Peroxisome biogenesis disorder 11B 1 105120 Amyloidosis, finnish type 1

Mental Retardation, X-Linked, With Or Without Seizures, Arx- 133020 Erythermalgia, primary 1 300419 1 Related 254770 Epilepsy, myoclonic juvenile 1

602541 Muscular dystrophy, congenital, megaconial type 1 614619 Hyperekplexia 2, autosomal recessive 1

609161 Striatal degeneration, autosomal dominant 1 Encephalopahty, lethal, due to defective mitochondrial 614388 1 600363 Spastic paraplegia 6, autosomal dominant 1 peroxisomal fission

300577 Mental retardation, X-linked 91 1 614563 Mental retardation, autosomal dominant 13 1

610542 Myasthenic Syndrome, Congenital, With Tubular Aggregates 1 1 606703 Dyskinesia, familial, with facial myokymia 1

300210 Mental retardation, X-linked 58 1 614464 Joubert syndrome 15 1

159000 Muscular dystrophy, limb-girdle, type 1A 1 300537 Heterotopia, periventricular, ED variant 1

121201 Seizures, Benign Familial Neonatal, 2 1 125370 Dentatorubro-pallidoluysian atrophy 1

614153 Spinocerebellar ataxia 36 1 608673 Charcot-Marie-Tooth disease, axonal, type 2L 1

124000 Mitochondrial complex III deficiency, nuclear type 1 1 614815 Joubert syndrome 18 1

615625 Spastic paraplegia 72 1 614212 Encephalopathy, acute, infection-induced, 4 1

137200 Neuromyotonia and axonal neuropathy, autosomal recessive 1 615866 Mental retardation, autosomal dominant, 27 1

608027 Pontocerebellar hypoplasia, type 3 1 606438 Huntington disease-like 2 1

612075 Mitochondrial DNA depletion syndrome 8A 1 616039 Charcot-Marie-Tooth disease, recessive intermediate D 1

11 Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016

OMIM Name TOTAL OMIM Name TOTAL

614039 Cortical dysplasia, complex, with other brain malformations 1 601718 Retinitis pigmentosa 19 15

105200 Amyloidosis, familial visceral 1 276900 Usher syndrome, type 1B 14

311070 Charcot-Marie-Tooth disease, X-linked recessive, 5 1 180200 Retinoblastoma 13

614254 Mental retardation type 8 1 610093 Microphthalmia, isolated 2 13

606482 Charcot-Marie-Tooth disease, dominant intermediate B 1 611755 Leber congenital amaurosis 10 12

Amyotrophic lateral sclerosis 15, with or without frontotemporal 276901 Usher syndrome, type 2A 12 300857 1 dementia 222300 Wolfram syndrome 11

601003 Brody myopathy 1 204000 Leber congenital amaurosis 1 11

600669 Epilepsy, idiopathic generalized 1 277600 Weill-Marchesani Syndrome 1; 11

610532 Leukodystrophy, hypomyelinating, 5 1 258870 Gyrate atrophy of choroid and retina with or without ornithinemia 10

Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal 302350 Nance-Horan syndrome 9 612069 1 Dementia 604841 Stickler syndrome, type II 9

615871 Epileptic encephalopathy, early infantile, 24 1 258450 Progressive external ophthalmoplegia, autosomal recessive 9

615009 Mental retardation, autosomal dominant 17 1 600105 Retinitis pigmentosa 12 9

613610 Cranioectodermal dysplasia 2 1 612712 Leber congenital amaurosis 13 9

610978 Choreoathetosis, hypothyroidism, and neonatal respiratory distress 1 613826 Leber congenital amaurosis 6 9

614099 Cranioectodermal dysplasia 3 1 604116 Cone-rod dystrophy 3 9

613435 Amyotrophic lateral sclerosis 12 1 153700 Macular Dystrophy, Vittelliform 8

613855 Episodic ataxia, type 5 1 602772 Retinitis pigmentosa 25 8

616158 Mental retardation, autosomal dominant 31 1 613794 Retinitis pigmentosa 20 7

612656 Episodic ataxia, type 6 1 611544 Cataract 17, multiple types 7

616362 Mental retardation, autosomal dominant 36 1 609254 Senior-Loken syndrome 5 7

123320 Creatine phosphokinase, elevated serum 1 110100 Blepharophimosis, epicanthus inversus, and ptosis 7

614970 Joubert syndrome 20 1 607313 Gaze palsy, horizontal, with progressive scoliosis 6

600072 Insomnia, fatal familial 1 613809 Retinitis pigmentosa 39 6

614847 Epilepsy, idiopathic generalized, suscpetibility to, 12 1 613801 Retinitis pigmentosa 40 6

616299 Lipoyltransferase 1 deficiency 1 300071 Night blindness, congenital stationary (incomplete), 2A, X-linked 6

616579 Mental retardation, autosomal dominant, 40 1 217080 Jalili syndrome 6

607684 Charcot-Marie-Tooth disease, type 2E 1 Progressive external ophthalmoplegia with mitochondrial DNA 610131 6 603689 Hereditary myopathy with early respiratory failure 1 deletions, autosomal dominant 4

612291 Joubert syndrome 8 1 613428 Retinitis pigmentosa 54 5

600513 Epilepsy, nocturnal frontal lobe, 1 1 613829 Leber congenital amaurosis 7 5

615007 Basal ganglia calcification, idiopathic, 4 1 106210 Aniridia 5

610353 Epilepsy, Nocturnal Frontal Lobe, 4 1 604219 Cataract 9, multiple types 5

615483 Basal ganglia calcification, idiopathic, 5 1 604232 Leber congenital amaurosis 3 5

03. Ophthalmological disorders 312600 Retinitis pigmentosa 2 5

TOTAL 872 300600 Aland Island eye disease 5

203100 Albinism, oculocutaneous, type IA 64 184840 Stickler syndrome, type III 5

535000 Leber optic atrophy / Leber hereditary optic neuropathy 43 610019 Cataract 18, autosomal recessive 5

248200 Stargardt disease 1 35 615145 Microphthalmia, isolated, with coloboma 9 5

165500 Optic atrophy 1 31 614073 Hermansky-Pudlak syndrome 4 5

203200 Albinism, oculocutaneous, type II 31 615113 Microphthalmia, isolated 8 5

600118 Warburg micro syndrome 1 29 605472 Usher syndrome, type iic 4

203800 Alstrom syndrome 28 180100 Retinitis pigmentosa 1 4

610092 Microphthalmia with coloboma 3 27 300029 Retinitis pigmentosa 3 4

Glaucoma 3A, primary open angle, congenital, juvenile, or adult 267750 Knobloch syndrome, type 1 4 231300 21 onset 608194 Cone-rod dystrophy 13 4

609508 Stickler sydrome, type I, nonsyndromic ocular 17 604393 Leber congenital amaurosis 4 4

12 Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016

OMIM Name TOTAL OMIM Name TOTAL

217700 Corneal endothelial dystrophy 2, autosomal recessive 4 607921 Retinitis pigmentosa 30 2

266920 Mainzer-Saldino syndrome 4 136880 Retinitis punctata albescens 2

248800 Marinesco-Sjogren syndrome 4 601186 Microphthalmia, isolated, with coloboma 8 2

262300 Achromatopsia-3 4 602083 Usher syndrome, type 1F 2

607932 Microphthalmia, syndromic 6 4 268100 Enhanced S-cone syndrome 2

203300 Hermansky-Pudlak syndrome 1 3 310500 Night blindness, congenital stationary (complete), 1A, X-linked 2

613756 Retinitis pigmentosa 49 3 Night blindness, congenital stationary (incomplete), 2B, autosomal 610427 2 613862 Retinitis pigmentosa 38 3 recessive

601777 Cone-rod dystrophy 6 3 204100 Leber congenital amaurosis 2 2

143200 Wagner syndrome 1 / Wagner vitreoretinopathy 3 610202 Cataract, pulverulent or cerulean, with or without microcornea 2

607541 Corneal dystrophy, Avellino type 3 608553 Leber congenital amaurosis 9 1

614072 Hermansky-Pudlak syndrome 3 3 255320 Minicore myopathy with external ophthalmoplegia 1

248450 Manitoba oculotrichoanal syndrome 3 Night blindness, congenital stationary (complete), 1C, autosomal 613216 1 613810 Retinitis pigmentosa 43 3 recessive

216900 Achromatopsia-2 3 613750 Retinitis pigmentosa 27 1

180500 Axenfeld-Rieger syndrome, type 1 3 116200 Cataract 1, multiple types 1

300166 Microphthalmia, syndromic 2 3 165300 Optic atrophy 3 with cataract 1

614170 Brittle Cornea Syndrome 2 3 126600 Doyne honeycomb degeneration of retina 1

229200 Brittle cornea syndrome 3 225100 Ectopia lentis, isolated, autosomal recessive 1

608233 Hermansky-Pudlak syndrome 2 3 613194 Retinitis pigmentosa-50 1

133780 Exudative vitreoretinopathy 3 Patterned dystrophy of retinal pigment epithelium (macular 169150 1 610359 Retinitis pigmentosa 33 3 dystrophy)

135700 Fibrosis Of Extraocular Muscles, Congenital, 1 3 137760 Adult-onset primary open angle glaucoma 1

614074 Hermansky-Pudlak syndrome 5 3 609923 Retinitis pigmentosa 31 1

613587 Occult macular dystrophy 3 614134 Stickler syndrome, type IV 1

613767 Retinitis pigmentosa 45 3 604229 Peters anomaly 1

606574 Oculocutaneous albinism, type IV 3 613105 Choriodal dystrophy, central areolar 2 1

203290 Albinism, oculocutaneous, type III 3 611131 Retinitis pigmentosa 37 1

600638 Fibrosis of extraocular muscles, congenital, 3A 3 309300 Megalocornea 1, X-linked 1

601067 Usher syndrome, type 1D 3 269400 Corneal opacification and other ocular anomalies 1

600132 Retinitis pigmentosa 14 3 614500 Cone-rod dystrophy 16 1

614225 Warburg micro syndrome 2 3 613887 Cataract 36 1

613856 Acromatopsia 3 610612 Leber congenital amaurosis 12 1

6113220 Cataract type 43 3 614691 Cataract 38, autosomal recessive 1

600059 Retinitis pigmentosa 13 3 614076 Hermansky-Pudlak syndrome 7 1

615233 Retinitis pigmentosa 66 2 612095 Retinitis pigmentosa 41 1

614296 Wolfram-like syndrome, autosomal dominant 2 614077 Hermansky-Pudlak syndrome 8 1

608161 Vitelliform macular dystrophy, adult-onset 2 206900 Microphthalmia, Syndromic 3 1

310600 Norrie disease 2 601631 Iridogoniodysgenesis, type 1 1

613581 Retinitis pigmentosa 56 2 613769 Retinitis pigmentosa 44 1

153800 Macular degeneration, age-related, 2 2 251900 Mitochondrial myopathy 1

600886 Hyperferritinemia With Or Without Cataract 2 178300 Ptosis, hereditary congenital, 1 1

609286 Progressive external ophthalmoplegia, autosomal dominant, 3 2 601414 Retinitis pigmentosa 18 1

300500 Albinism, Ocular, Type I 2 613758 Retinitis pigmentosa 47 1

615973 Cone-rod dystrophy 20 2 148210 Keratitis-ichthyosis-deafness syndrome 1

614075 Hermansky-Pudlak syndrome 6 2 608471 Corneal dystrophy, lattice type IIIA 1

606068 Retinitis pigmentosa 28 2 193220 Vitreoretinochoroidopathy 1

614181 Retinitis pigmentosa 62 2 610356 Retinal cone dystrophy 3B 1

13 Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016

OMIM Name TOTAL OMIM Name TOTAL

610381 Cone-rod dystrophy 11 1 300914 Deafness, X-linked 6 2

609887 Glaucoma 1, open angle, G 1 603622 Deafness, autosomal dominant 17 2

225200 Ectopia lentis et pupillae 1 612444 Ciliary dyskinesia, primary, 9, with or without situs inversus 1

600138 Retinitis pigmentosa 11 1 607821 Deafness, autosomal recessive 37 1

606952 Albinism, oculocutaneous, type IB 1 615067 Ciliary dyskinesia, primary, 20 1

116700 Cataract 13 with adult i phenotype 1 610153 Deafness, autosomal recessive 49 1

Microspherophakia and/or megalocornea, with ectopia lentis and 613558 Deafness, autosomal dominant 51 1 251750 1 with or without secondary glaucoma 607084 Deafness, autosomal recessive 31 1

04. Ear, nose and throat disorders 609006 Deafness, autosomal recessive 36 1

TOTAL 285 616044 Deafness, autosomal dominant 65 1

600316 Deafness, autosomal recessive 3 23 614899 Deafness, autosomal recessive 93 1

603720 Deafness, autosomal recessive 16 22 614035 Deafness, autosomal recessive 29 1

220290 Deafness, autosomal recessive 1A 22 612650 Ciliary dyskinesia, primary, 12 1

601071 Deafness, autosomal recessive 9 19 606763 Ciliary dyskinesia, primary, 2 1

600974 Deafness, autosomal recessive 7 11 613307 Deafness, autosomal recessive 79 1

609823 Deafness, autosomal recessive 28 10 611451 Deafness, autosomal recessive 63 1

608565 Deafness, autosomal recessive 35 10 304700 Mohr-Tranebjaerg syndrome 1

602092 Deafness, autosomal recessive 18A 9 614935 Ciliary dyskinesia, primary, 19 1

613391 Deafness, autosomal recessive 84A 9 610852 Ciliary dyskinesia, primary, 6 1

603629 Deafness, autosomal recessive 21 9 607039 Deafness, autosomal recessive 22 1

211500 Fazio-Londe disease 9 05. Bone, skin and immune disorders

604928 Wolfram syndrome 2 8 TOTAL 1580

613079 Deafness, autosomal recessive 77 7 226700 Epidermolysis bullosa, junctional, Herlitz type 62

601072 Deafness, autosomal recessive 8/10 7 166200 Osteogenesis imperfecta, type I 59

609533 Deafness, autosomal recessive 23 7 130000 Ehlers-Danlos syndrome, type I 44

611884 Ciliary dyskinesia, primary, 7, with or without situs inversus 7 154700 Marfan syndrome 40

608644 Ciliary dyskinesia, primary, 3, with or without situs inversus 6 146700 Ichthyosis vulgaris 39

610265 Deafness, autosomal recessive 67 6 613217 Diarrhea 5, with tufting enteropathy, congenital 32

607101 Deafness, autosomal recessive 30 6 265800 Pycnodysostosis 32

601869 Deafness, autosomal recessive 15 5 256500 Netherton syndrome 31

608647 Ciliary dyskinesia, primary, 5 5 130050 Ehlers-Danlos syndrome, type IV 28

614679 Ciliary dyskinesia, primary, 17 5 130020 Ehlers-Danlos syndrome, type III 24

Deafness, Autosomal Recessive 4, With Enlarged Vestibular 242100 Ichthyosis, congenital, autosomal recessive 2 23 600791 5 Aqueduct 308100 Ichthyosis, X-linked 23

614617 Deafness , autosomal recessive 86 4 308300 Incontinentia pigmenti, type II 22

613808 Ciliary dyskinesia, primary, 15 4 305100 Ectodermal dysplasia 1, hypohidrotic, X-linked 20

601386 Deafness, autosomal recessive 12 4 251850 Microvillus inclusion disease 20

Deafness, congenital with inner ear agenesis, microtia, and 121050 Contractural arachnodactyly, congenital 19 610706 3 microdontia 259700 Osteopetrosis, autosomal recessive 1 19

220500 Door syndrome 3 231050 Geleophysic dysplasia 1 19

613807 Ciliary dyskinesia, primary, 14 3 226600 Epidermolysis bullosa dystrophica, autosomal recessive 18

612649 Ciliary dyskinesia, primary, 11 3 610968 Osteogenesis imperfecta, type XI 17

304500 Deafness, X-linked 1 2 131760 Epidermolysis bullosa simplex, Dowling-Meara type 17

600060 Deafness, autosomal recessive 2 2 614602 Trichohepatoenteric syndrome 2 15

600652 Deafness, autosomal dominant 4A 2 242300 Ichthyosis, congenital, autosomal recessive 1 15

614614 Deafness, autosomal dominant 4B 2 306400 Chronic granulomatous disease, X-linked 15

601317 Deafness, autosomal dominant 11 2 603553 Hemophagocytic lymphohistiocytosis, familial, 2 15

609646 Deafness, autosomal recessive 42 2 228600 Hyaline fibromatosis syndrome 15

14 Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016

OMIM Name TOTAL OMIM Name TOTAL

275210 Restrictive dermopathy, lethal 14 102700 Adenosine deaminase deficiency 7

601277 Ichthyosis, congenital, autosomal recessive 4A 14 131800 Epidermolysis bullosa simplex, Weber-Cockayne type 7

242500 Ichthyosis congenita type 4B, Harlequin 14 609536 C5 deficiency 6

100800 Achondroplasia 14 Ehlers-Danlos like syndrome, autosomal recessive, due to tenascin 606408 6 604777 Ichthyosis, congenital, autosomal recessive 5 13 X deficiency

154400 Acrofacial dysostosis 1, Nager type 13 259770 Osteoporosis-pseudoglioma syndrome 6

259730 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 12 609220 Bruck syndrome 2 6

119600 Cleidocranial dysplasia 12 608649 Ichthyosis prematurity syndrome 6

201100 Acrodermatitis enteropathica zinc deficiency type 12 127300 Leri-Weill dyschondrosteosis 6

208230 Arthropathy, progressive pseudorheumatoid, of childhood 12 193700 Arthrogryposis, distal, type 2A 6

190350 Trichorhinophalangeal syndrome, type I 12 Ehlers-Danlos syndrome with progressive kyphoscoliosis, 614557 6 608898 Hemophagocytic lymphohistiocytosis, familial, 3 12 myopathy, and hearing loss

166210 Osteogenesis imperfecta, type II 12 609796 Peeling skin syndrome, acral type 6 600972 Achondrogenesis Ib 11 209950 Mycobacterial infection, atypical, familial disseminated 6 122470 Cornelia de Lange syndrome 1 11 607944 Spondyloenchondrodysplasia with immune dysregulation 6

601680 Arthrogryposis, distal, type 2B 11 214450 Griscelli syndrome, type 1 6

131750 Epidermolysis bullosa dystrophica, AD 11 200600 Achondrogenesis, type IA 6

612940 Cutis laxa, autosomal recessive, type IIB 10 127550 Dyskeratosis congenita, autosomal dominant 1 6

267500 Reticular dysgenesis 10 166300 Multicentric carpotarsal osteolysis syndrome 6

245000 Papillon-Lefevre syndrome 10 610682 Osteogenesis imperfecta, type VII 5

300373 Osteopathia striata with cranial sclerosis 10 214500 Chediak-Higashi syndrome 5

Severe combined immunodeficiency, autosomal recessive, t cell- 166600 Osteopetrosis, autosomal dominant 2 5 601457 10 negative, b cell-negative, nk cell-positive 226730 Epidermolysis bullosa, junctional, with pyloric atresia 5

225400 Ehlers-Danlos syndrome, type VI 10 143095 Spondyloepiphyseal dysplasia with congenital joint dislocations 5

161200 Nail-patella syndrome 10 146800 Ichthyosis, Bullous Type 5

259720 Osteopetrosis, autosomal recessive 5 10 613989 Dyskeratosis congenita, autosomal recessive 4 5

102500 Hajdu-Cheney syndrome 9 209920 MHC class II deficiency, complementation group B 5

600376 Telangiectasia, hereditary hemorrhagic, type 2 9 177170 Pseudoachondroplasia 5

610915 Osteogenesis imperfecta, type VIII 9 166700 Buschke-Ollendorff syndrome 5

136140 Floating-Harbor syndrome 9 260920 Hyper-IgD syndrome 5

226650 Epidermolysis bullosa, junctional, non-Herlitz type 9 603554 Omenn syndrome 5

301000 Wiskott-Aldrich syndrome 9 243700 Hyper-IgE recurrent infection syndrome, autosomal recessive 5

611431 Legius syndrome 9 259420 Osteogenesis imperfecta, type III 5

135100 Fibrodysplasia ossificans progressiva 9 Waardenburg syndrome, type 2E, with or without neurologic 611584 5 606545 Ichthyosis, congenital, autosomal recessive 3 9 involvement

222600 Diastrophic dysplasia 8 113800 Epidermolytic hyperkeratosis 4

158300 Arthrogryposis, Distal, Type 7 8 602078 Fibrosis of extraocular muscles, congenital, 2 4

Hypotrichosis 7 /Woolly hair, autosomal recessive 2 with or without 144200 Palmoplantar keratoderma, epidermolytic 4 604379 8 hypotrichosis 604625 Tooth agenesis, selective, 3 4

208085 Arthrogryposis, renal dysfunction, and cholestasis 1 8 602450 Severe combined immunodeficiency, Athabascan type 4

257980 Odontoonychodermal dysplasia 8 108145 Arthrogryposis, distal, type 5 4

130060 Ehlers-Danlos syndrome, type VII 8 607903 Hypotrichosis 6 4

613101 Hemophagocytic lymphohistiocytosis, familial, 5 8 278700 Xeroderma pigmentosum, group A 4

614437 Cutis laxa, autosomal recessive, type IB 8 613002 Herpes simplex encephalitis, susceptibility to, 2 4

614335 Arthrogryposis, distal, type 1B 7 278150 Hypotrichosis 8 4

187300 Telangiectasia, hereditary hemorrhagic, type 1 7 614078 Chondrodysplasia with joint dislocations, GPAPP type 4

611490 Osteopetrosis, autosomal recessive 4 7 132400 Epiphyseal Dysplasia, Multiple, 1 4

133700 Exostoses, multiple, type 1 7

15 Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016

OMIM Name TOTAL OMIM Name TOTAL

Autoimmune polyendocrinopathy syndrome , type I, with or 615085 Osteopetrosis, autosomal recessive 8 2 240300 4 without reversible metaphyseal dysplasia 615468 Immunodeficiency 12 2

612301 Osteopetrosis, autosomal recessive 7 4 167200 Pachyonychia congenita 1 2

614816 Loeys-Dietz syndrome, type 4 4 615513 Immunodeficiency 14 2

614613 Acrodysostosis 2, with or without hormone resistance 4 248300 Mal de Meleda 2

608612 Mandibuloacral dysplasia with type B lipodystrophy 4 Immunodeficiency-centromeric instability-facial anomalies 242860 2 167210 Pachyonychia congenita 2 4 syndrome 1 226980 Wolcott-Rallison syndrome 4 224750 Schopf-Schulz-Passarge syndrome 2

613990 Dyskeratosis congenita, autosomal dominant 3 4 Immunodysregulation, polyendocrinopathy, and enteropathy, 304790 2 601859 Autoimmune lymphoproliferative syndrome 4 X-linked

278780 Xeroderma pigmentosum, group G/Cockayne syndrome 3 193500 Waardenburg syndrome, type 1 2

Cranioosteoarthropathy /Hypertrophic osteoarthropathy, primary, 300882 Cornelia de Lange syndrome 5 2 259100 3 autosomal recessive 1 113000 Brachydactyly, type B1 2

616229 Osteogenesis Imperfecta, Type XVI 3 266300 Skin, hair, and eye pigmentation type 2 1

616353 Dyskeratosis congenita, autosomal recessive 6 3 603552 Hemophagocytic lymphohistiocytosis, familial, 4 1

612281 Ichthyosis, congenital, autosomal recessive 6 3 613177 Cutis laxa, autosomal recessive, type IC 1

305000 Dyskeratosis congenita, X-linked 3 613943 Ichthyosis, congenital, autosomal recessive 8 1

613849 Osteogenesis imperfecta, type XII 3 Severe combined immunodeficiency with microcephaly, growth 611291 1 601813 Exudative vitreoretinopathy 4 3 retardation, and sensitivity to ionizing radiation

614890 Immunodeficiency 29, mycobacteriosis 3 166350 Osseous heteroplasia, progressive 1

133200 Erythrokeratodermia variabilis et progressiva 3 607823 Hypotrichosis-lymphedema-telangiectasia syndrome 1

Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal 259440 Osteogenesis imperfecta, type IX 1 224900 3 recessive 606579 Vitiligo-associated multiple autoimmune disease susceptibility 1 1

300755 Agammaglobulinemia, X-linked 1 3 266600 Inflammatory Bowel Disease 1 1

228520 Fibrochondrogenesis 1 3 614856 Osteogenesis imperfecta, type XIII 1

614653 Neuropathy, hereditary sensory and autonomic, type VI 3 610967 Osteogenesis imperfecta, type V 1

612138 Epidermolysis bullosa simplex with pyloric atresia 3 615539 Ehlers-Danlos syndrome musculocontractural type 2 1

609192 Loeys-Dietz syndrome 1 3 615896 Hypotrichosis 13 1

615066 Osteogenesis imperfecta, type XIV 3 608681 Spondylocostal dysostosis 2, autosomal recessive 1

602875 Acromesomelic dysplasia, maroteaux type 3 611497 Osteopetrosis, autosomal recessive 6 1

234050 Trichothiodystrophy, nonphotosensitive 1 3 610102 C7 deficiency 1

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal 607785 Leukemia, juvenile myelomonocytic 1 129490 3 dominant 200610 Achondrogenesis, type II or hypochondrogenesis 1

607634 Osteopetrosis, autosomal dominant 1 3 613982 Osteogenesis imperfecta, type VI 1

305600 Focal dermal hypoplasia 3 259600 Multicentric osteolysis, nodulosis, and arthropathy 1

615425 Epidermolysis bullosa simplex, sutosomal recessive 2 3 166710 Osteoporosis 1

613652 C1q deficiency 3 124200 Darier disease 1

236700 McKusick-Kaufman syndrome 3 133701 Exostoses, multiple, type 2 1

610168 Loeys-Dietz syndrome, type 2 2 308230 Immunodeficiency With Hyper-Igm, Type 1 1

228930 Fuhrmann syndrome 2 604864 Osteoarthritis with mild chondrodysplasia 1

233700 Chronic granulomatous disease due to deficiency of NCF-1 2 174800 McCune-Albright syndrome, somatic, mosaic 1

257920 3MC syndrome 1 2 233650 Combined cellular and humoral immune defects with granulomas 1

613981 Hypotrichosis 3 2 300400 Severe combined immunodeficiency, X-linked 1

258480 Opsismodysplasia 2 278720 Xeroderma pigmentosum, group C 1

601001 Epidermolysis bullosa simplex, recessive 1 2 277300 Spondylocostal dysostosis 1, autosomal recessive 1

614219 Adams-Oliver syndrome 2 2 600962 Palmoplantar keratoderma, nonepidermolytic 1

259710 Osteopetrosis, autosomal recessive 2 2 278760 Xeroderma pigmentosum, group F 1

166220 Osteogenesis imperfecta, type IV 2 615735 Palmoplantar keratoderma, nonepidermolytic, focal or diffuse 1

16 Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016

OMIM Name TOTAL OMIM Name TOTAL

609939 Systemic lupus erythematous, association with susceptibility to, 6 1 613426 Cardiomyopathy, dilated, 1S 3

148600 Palmoplantar keratoderma, punctate type ia 1 613695 Long QT syndrome-5 3

208250 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 1 611615 Cardiomyopathy, dilated, 1X 3

153400 Lymphedema-distichiasis syndrome 1 302060 Barth syndrome 3

225410 Ehlers-Danlos syndrome, type 7C 1 600996 Arrhythmogenic right ventricular dysplasia 2 3

609628 Majeed syndrome 1 209880 Central hypoventilation syndrome, congenital 3

606843 Immunodeficiency with hyper-IgM, type 3 1 600858 Cardiomyopathy, familial hypertrophic 6 3

172800 Piebaldism 1 Ventricular tachycardia, catecholaminergic polymorphic, 5, with or 615441 3 607594 Immunodeficiency, common variable, 1 1 without muscle weakness

147060 Hyper-IgE recurrent infection syndrome 1 302045 Cardiomyopathy, dilated, 3B 2

193530 Weyers acrofacial dysostosis 1 272120 susceptibility to sudden infant death syndrome 2

614204 Psoriasis, generalized pustular 1 614823 Aortic valve disease 2 2

601884 Bone Mineral Density Quantitative Trait Locus 1 1 601494 Cardiomyopathy, dilated, 1D 2

120100 Familial Cold Autoinflammatory Syndrome 1 1 611876 Brugada syndrome 4 2

131950 Epidermolysis bullosa simplex, Ogna type 1 601154 Cardiomyopathy, dilated, 1E 2

604536 Ectodermal dysplasia/skin fragility syndrome 1 613123 Brugada syndrome 8 2

615028 Epidermolysis bullosa, nonspecific, autosomal recessive 1 614466 Coronary heart disease, susceptibility to, 6 2

278750 Xeroderma pigmentosum, variant type 1 600462 Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 2

155950 Melorheostosis with osteopoikilosis 1 223360 Dopamine beta-hydroxylase deficiency 2

156530 Metatropic dysplasia 1 615248 Cardiomyopathy, dilated, 1KK 2

06. Cardiological and lung disorders 604400 Arrhythmogenic right ventricular dysplasia 5 2

TOTAL 259 613252 Cardiomyopathy, dilated, 1EE 1

192500 Long QT syndrome-1 21 612955 Long QT syndrome 12 1

115197 Cardiomyopathy, familial hypertrophic, 4 20 615396 Cardiomyopathy, dilated, 1MM 1

600919 Long QT syndrome-4 20 608751 Cardiomyopathy, familial hypertrophic, 8 1

540000 MELAS syndrome 16 601005 Timothy syndrome 1

192600 Cardiomyopathy, familial hypertrophic 1 13 611879 Cardiomyopathy, dilated, 1Z 1

603830 Long QT syndrome-3 11 300751 Anemia, sideroblastic, X-linked 1

610476 Arrhythmogenic right ventricular dysplasia 11 10 211400 Bronchiectasis with or without elevated sweat chloride 1 1

220400 Jervell and Lange-Nielsen syndrome 10 613875 Cardiomyopathy, familial hypertrophic, 19 1

611820 Long QT syndrome-11 8 614980 Congenital heart defects, nonsyndromic, 2 1

601144 Brugada syndrome 1 7 613876 Cardiomyopathy, familial hypertrophic, 20 1

607450 Arrhythmogenic right ventricular dysplasia 8 6 607554 Atrial fibrillation, familial, 3 1

187500 Tetralogy of Fallot 6 612158 Cardiomyopathy, dilated, 1AA 1

615373 Left ventricular noncompaction 8 5 613693 Long QT syndrome-6 1

604145 Cardiomyopathy, dilated, 1G 5 612098 Cardiomyopathy, familial hypertrophic, 11 1

610193 Arrhythmogenic right ventricular dysplasia 10 4 613243 Cardiomyopathy, familial hypertrophic, 13 1

609040 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 4 07. Vascular disorders

613690 Cardiomyopathy, familial hypertrophic, 7 4 TOTAL 304

604772 Ventricular tachycardia, catecholaminergic polymorphic, 1 4 Cerebral arteriopathy with subcortical infarcts and 125310 65 613688 Long QT syndrome-2 3 leukoencephalopathy

611818 Long QT syndrome-9 3 236200 Homocystinuria, B6-responsive and nonresponsive types 44

115200 Cardiomyopathy, dilated, 1A 3 106100 Angioedema, hereditary, type I 42

Congenital interstitial lung disease with nephrotic syndrome and 208050 Arterial tortuosity syndrome 30 605025 3 epidermolysis bullosa 613118 Antithrombin III deficiency 23

212350 Sengers syndrome 3 132900 Aortic aneurysm, familial thoracic 4 10

300257 Danon disease 3 236250 Homocystinuria due to MTHFR deficiency 8

601493 Cardiomyopathy, dilated 1C 3 231200 Bernard-Soulier syndrome, type C 6

17 Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016

OMIM Name TOTAL OMIM Name TOTAL

612304 Thrombophilia due to protein C deficiency, autosomal recessive 6 602722 Renal tubular acidosis, distal, autosomal recessive 15

116860 Cerebral Cavernous Malformations 5 143500 Gilbert syndrome 15

614473 Arterial calcification, generalized, of infancy, 2 5 231550 Achalasia-addisonianism-alacrimia syndrome 15

176860 Thrombophilia due to protein C deficiency, autosomal dominant 5 309400 Menkes disease 15

109730 Aortic Valve Disease 1 4 612923 Hemolytic uremic syndrome, atypical, susceptibility to, 3 14

614495 Pseudohypoaldosteronism, type IID 4 615989 Bardet-Biedl syndrome 12 14

615688 Polyarteritis nodosa, childhood-onset 4 615987 Bardet-Biedl syndrome 10 14

612336 Thrombophilia due to protein S deficiency, autosomal dominant 4 Hypoparathyroidism-retardation-dysmorphism syndrome(Sanjad- 241410 12 Sakati Syndrome) Hemorrhagic destruction of the brain, subpendymal calcification, 606871 4 and cataracts 104200 Alport syndrome, autosomal dominant 12

208000 Arterial calcification, generalized, of infancy, 1 4 615008 Nephrotic syndrome, type 7 12

616006 Hennekam lymphangiectasia-lymphedema syndrome 2 3 244200 Hypogonadotropic hypogonadism 3 with or without anosmia 12

Cerebral autosomal recessive arteriopathy with subcortical infarcts 607364 Bartter syndrome, type 3 11 600142 3 and leukoencephalopathy 606966 Nephronophthisis 4 11

182410 Sneddon syndrome 3 615981 Bardet-Biedl syndrome 2 10

268200 Myoglobinuria, acute recurrent, autosomal recessive 3 615983 Bardet-Biedl syndrome 5 9

235510 Hennekam lymphangiectasia-lymphedema syndrome 1 3 609049 Pierson syndrome 9

613780 Aortic aneurysm, familial thoracic 7 2 275200 Hypothyroidism, congenital, nongoitrous, 1 9

613834 Multisystemic smooth muscle dysfunction syndrome 2 243800 Johanson-Blizzard syndrome 9

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle 249000 Meckel syndrome 1 9 611773 2 cramps 604387 Nephronophthisis 3 8

614595 Preeclampsia/eclampsia 5 2 300009 Dent disease 8

603285 Cerebral cavernous malformations 3 2 300068 Androgen insensitivity 8

614514 Thrombophilia due to protein S deficiency, autosomal recessive 2 614844 Joubert syndrome 19 8

615934 STING-associated vasculopathy, infantile-onset 1 274000 Thrombocytopenia-absent radius syndrome 8

610618 Angioedema, hereditary, type III 1 188570 Thyroid hormone resistance 7

120000 Coarctation of aorta 1 237500 Dubin-Johndon syndrome 7

614519 Hemorrhage, intracerebral, susceptibility to 1 274600 Pendred syndrome 7

08. Liver, kidney and endocrinological disorders 612284 Meckel syndrome 6 7

TOTAL 1673 613090 Bartter syndrome, type 4b, digenic 7

173900 Polycystic kidney disease 1 393 605231 Bardet-Biedl syndrome 6 7

263200 Autosomal recessive polycystic kidney disease 150 610725 Nephrotic syndrome, type 3 6

613095 Polycystic kidney disease 2 64 612925 Hemolytic uremic syndrome, atypical, susceptibility to, 5 6

203780 Alport syndrome, autosomal recessive 62 194080 Denys-Drash syndrome 6

301050 Alport syndrome, X-linked 59 274500 Thyroid dyshormonogenesis 2A 6

167800 Pancreatitis, hereditary 50 262500 Laron syndrome 6

220100 Cystinuria 50 615990 Bardet-Biedl syndrome 13 6

263800 Gitelman syndrome 50 146110 Hypogonadotropic hypogonadism 7 with or without anosmia 6

605899 Glycine encephalopathy 46 601678 Bartter syndrome, type 1 5

235400 Hemolytic uremic syndrome, atypical, susceptibility to, 1 34 267430 Renal tubular dysgenesis 5

256300 Nephrotic syndrome, type 1 31 267300 Renal tubular acidosis with deafness 5

209900 Bardet-Biedl syndrome 1 22 614897 Hypogonadotropic hypogonadism 16 with or without anosmia 5

612924 Hemolytic uremic syndrome, atypical, susceptibility to, 4 22 614809 Nephropathy due to CFHR5 deficiency 5

615982 Bardet-Biedl syndrome 4 21 615573 Nephrotic syndrome, type 9 5

615878 Cholestasis, progressive familial intrahepatic 4 20 612653 Spherocytosis, type 4 4

256100 Nephronophthisis 1, juvenile 16 601331 Renal dysplasia, cystic, susceptibility to 4

615984 Bardet-Biedl syndrome 7 16 243300 Cholestasis, Benign Recurrent Intrahepatic, 1 4

600995 Nephrotic syndrome, type 2 16 201710 Lipoid adrenal hyperplasia 4

18 Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016

OMIM Name TOTAL OMIM Name TOTAL

309000 Lowe oculocerebrorenal syndrome 4 600955 Obesity with impaired prohormone processing 1

612926 Hemolytic uremic syndrome, atypical, susceptibility to, 6 4 141200 Hematuria, benign familial 1

615985 Bardet-Biedl syndrome 8 4 614839 Hypogonadotropic hypogonadism 10 with or without anosmia 1

241200 Bartter syndrome, type 2 4 602522 Bartter Syndrome, Type 4A 1

264350 Pseudohypoaldosteronism, type I 4 256370 Nephrotic syndrome, type 4 1

603860 Medullary cystic kidney disease 2 4 614450 Hypothyroidism, congenital, nongoitrous, 6 1

600208 Macrothrombocytopenia and progressive sensorineural deafness 4 146255 Hypoparathyroidism, sensorineural deafness, and renal dysplasia 1

614840 Hypogonadotropic hypogonadism 11 with or without anosmia 4 611561 Meckel Syndrome, Type 5 1

613820 Nephronophthisis 12 4 615397 Meckel syndrome, type 11 1

193100 Hypophosphatemic rickets, autosomal dominant 4 615382 Nephronophthisis 16 1

615991 Bardet-Biedl syndrome 14 4 201400 Adrenocorticotropic hormone deficiency 1

612922 Hemolytic uremic syndrome, atypical, susceptibility to, 2 4 615346 Precocious puberty, central, 2 1

237450 Hyperbilirubinemia, Rotor type, digenic 4 611134 Meckel syndrome 4 1

613885 Meckel syndrome 8 4 176410 Precocious puberty, male 1

307800 Hypophosphatemic rickets, X-linked dominant 4 613550 Nephronophthisis 11 1

615438 Infantile liver failure syndrome type 1 3 614209 Meckel Syndrome, Type 9 1

610628 Hypogonadotropic hypogonadism 4 with or without anosmia 3 613237 Focal Segmental Glomerulosclerosis 5 1

611590 Renal tubular acidosis, distal, with hemolytic anemia 3 602088 Nephronophthisis 2 1

601198 Hypocalcemia, autosomal dominant, with Bartter syndrome 3 274700 Thyroid dyshormonogenesis 3 1

146200 Hypoparathyroidism, familial, isolated 3 614491 Pseudohypoaldosteronism, type IIB 1

607361 Meckel Syndrome, Type 3 3 607748 Hypercholanemia, familial 1

616483 Infantile liver failure syndrome type 2 3 614858 Hypogonadotropic hypogonadism 14 with or without anosmia 1

616217 Nephronophthisis 19 3 174000 Medullary cystic kidney disease 1 1

277440 Rickets, vitamin D-resistant, type IIA 3 09. Reproductive disorders

603965 Glomerulosclerosis, focal segmental, 2 3 TOTAL 34

614199 Nephrotic syndrome, type 5, with or without ocular abnormalities 3 264600 Pseudovaginal perineoscrotal hypospadias 19

219050 Cryptorchidism, unilateral or bilateral 2 277180 Congenital bilateral absence of vas deferens 5

604278 Renal tubular acidosis, proximal, with ocular abnormalities 2 238320 Leydig cell hypoplasia, types I & II 3

233100 Renal glucosuria 2 261550 Persistent Mullerian duct syndrome, type I 2

614845 Nephronophthisis 15 2 270960 Spermatogenic failure 4 1

177200 Liddle syndrome 2 612965 46XY sex reversal 3 1

274300 Thyroid hormone resistance, autosomal recessive 2 607080 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy 1

612781 Isolated Growth Hormone Deficiency, Type Ib 2 613958 Spermatogenic failure 9 1

239200 Hyperparathyroidism, neonatal 2 608115 Ovarian hyperstimulation syndrome 1

607832 Glomerulosclerosis, focal segmental, 3 2 10. Tumoral disorders

174050 Polycystic liver disease 2 TOTAL 961

603278 Glomerulosclerosis, focal segmental, 1 2 604370 Breast-ovarian cancer, familial, susceptibility to, 1 248

177735 Pseudohypoaldosteronism type I, autosomal dominant 2 114480 Breast cancer, familial 174

615992 Bardet-Biedl syndrome 15 2 162200 Neurofibromatosis, type 1 158

Hypogonadotropic hypogonadism 1 with or without anosmia 114500 Colorectal Cancer 55 308700 2 (Kallmann syndrome 1) 175100 Adenomatous polyposis coli 51

615849 Culler-Jones syndrome 2 612555 Breast-ovarian cancer, familial, 2 46

103580 Pseudohypoparathyroidism Ia 2 609310 Colorectal cancer, hereditary nonpolyposis, type 2 19

138800 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors 2 193300 von Hippel-Lindau syndrome 18

615988 Bardet-Biedl syndrome 11 1 130650 Beckwith-Wiedemann syndrome 17

614841 Hypogonadotropic hypogonadism 12 with or without anosmia 1 158350 Cowden syndrome 1 17

147480 Cholestasis, intrahepatic, of pregnancy, 1 1 Lynch syndrome I / Colorectal cancer, hereditary nonpolyposis, 120435 13 173100 Growth hormone deficiency, isolated, type II 1 type 1

19 Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016

OMIM Name TOTAL OMIM Name TOTAL

171300 Pheochromocytoma 11 608716 Microcephaly 5, primary, autosomal recessive 31

151623 Li-Fraumeni syndrome 10 175780 Porencephaly 1 29

211980 Lung Cancer 8 610205 Alagille syndrome 2 29

276300 Mismatch repair cancer syndrome 8 210720 Microcephalic osteodysplastic primordial dwarfism, type II 25

613399 Breast-ovarian cancer, familial, susceptibility to, 3 7 163950 Noonan syndrome 1 23

171400 Multiple endocrine neoplasia IIA 6 312750 Rett syndrome 21

254450 Myelofibrosis with myeloid metaplasia, somatic 6 117550 Sotos syndrome 1 21

612263 Melanoma, cutaneous malignant, 7 6 Microcephaly 2, primary, autosomal recessive, with or without 604317 21 131100 Multiple endocrine neoplasia 1 6 cortical malformations

175200 Peutz-Jeghers syndrome 5 176450 Currarino syndrome 20

137215 Gastric Cancer, Hereditary Diffuse 5 242840 Vici syndrome 20

101000 Neurofibromatosis, type 2 4 175700 Greig cephalopolysyndactyly syndrome 18

614350 Colorectal cancer, hereditary nonpolyposis, type 5 4 615960 Poretti-Boltshauser syndrome 17

606719 Pancreatic cancer/melanoma syndrome 4 109400 Basal cell nevus syndrome 16

609265 Li-Fraumeni Syndrome 2 4 142623 Hirschsprung disease, susceptibility to, 1 15

614337 Colorectal cancer, hereditary nonpolyposis, type 4 4 235730 Mowat-Wilson syndrome 15

138000 Glomuvenous malformations 3 180849 Rubinstein-Taybi syndrome 15

608456 Familial adenomatous polyposis-2 3 147950 Hypogonadotropic hypogonadism 2 with or without anosmia 15

606764 Gastrointestinal stromal tumor 3 133540 Cockayne syndrome, type B 15

151400 Chronic lymphocytic leukemia 3 614325 Pitt-Hopkins-like syndrome 2 15

263300 Polycythemia vera 3 147920 Kabuki syndrome 1 14

605041 Spiegler-Brooke syndrome 3 607432 Lissencephaly 1 14

605373 Paragangliomas 3 3 222448 Donnai-Barrow syndrome 12

614470 Autoimmune lymphoproliferative syndrome type IV 3 609637 Holoprosencephaly 5 12

614286 Myelodysplastic syndrome, somatic 2 135150 Birt-Hogg-Dube syndrome 12

605074 Renal cell carcinoma, papillary 2 305400 Aarkog-Scott syndrome 11

614291 Breast-ovarian cancer, familial, susceptibility to, 4 2 148050 KBG syndrome 11

115310 Paragangliomas 4 2 251200 Microcephaly 1, primary, autosomal recessive 11

608089 Endometrial Cancer 2 612370 Hypogonadotropic hypogonadism 5 with or without anosmia 11

135290 Desmoid disease, hereditary 1 614540 Basal ganglia calcification, idiopathic, 3 11

155601 Melanoma, cutaneous malignant, 2 1 605130 Wiedemann-Steiner syndrome 10

174900 Juvenile polyposis syndrome 1 262600 Pituitary hormone deficiency, combined, 2 10

615108 Cowden syndrome 5 1 273750 3-M syndrome 1 10

614320 Pancreatic cancer, susceptibility to, 4 1 Microcephaly and chorioretinopathy with or without mental 251270 9 168000 Paragangliomas 1 1 retardation

231090 Hydatidiform mole 1 142900 Holt-Oram syndrome 9

601650 Paragangliomas 2 1 267000 Perlman syndrome 9

603769 Leukemia/lymphoma, T-cell 1 219000 Fraser syndrome 9

160980 Carney complex, type 1 1 114290 Campomelic dysplasia 9

613347 Pancreatic cancer 1 243150 Gastrointestinal defects and immunodeficiency syndrome 9

615107 Cowden syndrome 4 1 269150 Schinzel-giedion midface retraction syndrome 9

614165 Paragangliomas 5 1 268300 Roberts syndrome 8

11. Malformation and retardation syndromes 270400 Smith-Lemli-Opitz syndrome 8

TOTAL 1448 615071 Alazami syndrome 8

241080 Woodhouse-Sakati syndrome 67 604804 Microcephaly 3, primary, autosomal recessive 7

601559 Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 51 606854 Polymicrogyria, bilateral frontoparietal 7

214800 CHARGE syndrome 44 107480 Townes-Brocks syndrome 7

118450 Alagille syndrome 41 257320 Lissencephaly 2 (Norman-Roberts type) 7

20 Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016

OMIM Name TOTAL OMIM Name TOTAL

268400 Rothmund-Thomson syndrome 7 300867 Kabuki syndrome 2 4

300067 Lissencephaly, X-linked 7 613684 Rubinstein-Taybi syndrome 2 4

608393 Microcephaly 6, primary, autosomal recessive 7 614226 Holoprosencephaly 11 4

614749 Hyperphosphatasia with mental retardation syndrome 2 7 Jawad syndrome / Microcephaly with mental retardation and 251255 4 610829 Holoprosencephaly 9 7 digital anomalies

614833 Polymicrogyria with seizures 7 303100 Choroideremia 4

610733 Noonan syndrome 4 7 300523 Allan-Herndon-Dudley syndrome 4

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar 612921 3-M syndrome 2 4 609528 6 keratoderma syndrome 613454 Rett syndrome, congenital variant 4

Microcephaly with or without chorioretinopathy, lymphedema, or 608328 Weill-Marchesani syndrome 2, dominant 4 152950 6 mental retardation 612703 Microcephaly 7, primary, autosomal recessive 4

615510 Alacrima, achalasia, and mental retardation syndrome 6 615716 Hyperphosphatasia with mental retardation syndrome 4 4

615582 Rienhoff syndrome 6 615547 Schaaf-Yang syndrome 4

276820 Ulna and fibula, absence of, with sever limb deficiency 6 261540 Peters-plus syndrome 4

300048 Congenital short bowel syndrome 6 131300 Camurati-Engelmann disease 4

615503 Short-rib thoracic dysplasia 8 with or without polydactyly 6 606232 Phelan-McDermid syndrome 4

610954 Pitt-Hopkins syndrome 6 250400 Metaphyseal dysplasia, Spahr type 4

610756 Cerebrooculofacioskeletal syndrome 2 6 614080 Multiple congenital anomalies-hypotonia-seizures syndrome 1 4

218600 Baller-Gerold syndrome 6 187600 Thanatophoric dysplasia, type I 4

259775 Raine syndrome 6 Myopathy, areflexia, respiratory distress, and dysphagia, early- 614399 4 612702 Hypogonadotropic hypogonadism 6 with or without anosmia 6 onset 600920 Van den Ende-Gupta syndrome 6 142946 Holoprosencephaly-4 4 613091 Short-rib thoracic dysplasia 3 with or without polydactyly 6 615314 Craniosynostosis 3 4

215100 Rhizomelic chondrodysplasia punctata, type 1 6 614976 Carpenter syndrome 2 4

613819 Short-rib thoracic dysplasia 4 with or without polydactyly 6 615355 Noonan syndrome 8 4

300831 CK syndrome 6 615948 Orofaciodigital syndrome XIV 4

"Hypotonia, infantile, with psychomotor retardation and 615873 Helsmoortel-van der Aa syndrome 3 615419 6 characteristic facies" 615398 multiple congenital anomalies-hypotonia-seizures syndrome-3 3

239850 Cantu syndrome/ Hypertrichotic osteochondrodysplasia 5 613398 Warsaw breakage syndrome 3

220210 Ritscher-Schinzel syndrome 5 253290 Multiple pterygium syndrome, lethal type 3

615777 Desbuquois dysplasia 2 5 300590 Cornelia de Lange syndrome 2 3

251290 Band-like calcification with simplified gyration and polymicrogyria 5 616025 Hyperphosphatasia with mental retardation syndrome 5 3

210600 Seckel syndrome 1 5 604213 Chudley-McCullough syndrome 3

611603 Lissencephaly 3 5 601358 Nicolaides-Baraitser syndrome 3

174300 Orofaciodigital syndrome V 5 208150 Fetal akinesia deformation sequence 3

216400 Cockayne Syndrome A 5 225060 Cleft lip/palate ectodermal dysplasia syndrome 3

164280 Feingold syndrome 5 604321 Microcephaly 4, primary, autosomal recessive 3

614852 Microcephaly 9, primary, autosomal recessive 5 611553 Noonan syndrome 5 3

251300 Galloway-Mowat syndrome 5 609460 Goldberg-Shprintzen megacolon syndrome 3

Microcephaly, progressive, seizures, and cerebral and cerebellar 222765 Chondrodysplasia punctata, rhizomelic, type 2 3 615760 5 atrophy 260660 Cousin syndrome 3 300707 STAR syndrome 5 603736 Ohdo syndrome, SBBYS variant 3

612936 Spastic paraplegia 50, autosomal recessive 5 181450 Ulnar-mammary syndrome 3

600373 CODAS syndrome 4 258860 Orofaciodigital syndrome iv 3

607323 Duane-radial ray syndrome / Okihiro syndrome 4 243310 Baraitser-Winter syndrome 1 3

614673 Microcephaly 8, primary, autosomal recessive 4 212720 Martsolf syndrome 3

101600 Craniofacial-skeletal-dermatologic dysplasia 4 272430 Cold-induced sweating syndrome 3

176270 Prader-Willi syndrome 4 250250 Cartilage-hair hypoplasia 3

21 Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016

OMIM Name TOTAL OMIM Name TOTAL

616459 Al-Raqad syndrome 3 610828 Holoprosencephaly-7 2

311300 Otopalatodigital syndrome, type I 3 164200 Oculodentodigital dysplasia 2

606170 Genitopatellar syndrome 3 602501 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 2

614800 Short stature, optic nerve atrophy, and Pelger-Huet anomaly 3 146510 Pallister-Hall syndrome 2

269250 Schneckenbecken dysplasia 3 253250 Mulibery nanism 2

604391 Ataxia-telangiectasia-like disorder 3 610443 Koolen-De Vries syndrome 2

602482 Axenfeld-Rieger syndrome, type 3 3 305450 Opitz-Kaveggia syndrome /FG syndrome-1 2

Dandy-Walker Malformation with occipital cephalocele, 120330 Papillorenal syndrome 2 609222 3 autosomal dominant 176670 Hutchinson-Gilford progeria 2

610253 Kleefstra syndrome 3 609136 PCWH syndrome 2

251450 Desbuquois dysplasia 1 3 602081 Speech-Language Disorder 1 2

616586 Spastic paraplegia 9B, autosomal recessive 3 305620 Frontometaphyseal dysplasia 2

605039 Bohring-Opitz syndrome 3 300960 MEND syndrome 2

115150 Cardiofaciocutaneous Syndrome 1 3 309520 Lujan-Fryns syndrome 2

244450 Kaufman oculocerebrofacial syndrome 3 604292 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 1

614222 Warburg micro syndrome 3 3 603543 Limb-mammary syndrome 1

Hypotonia, infantile, with psychomotor retardation and 263750 Miller syndrome 1 616801 3 characteristic facies 2 603671 Acromelic frontonasal dysostosis 1

615926 Webb-Dattani syndrome 3 201000 Carpenter syndrome 1

615414 Microcephaly 11, primary, autosomal recessive 3 Cataracts, Growth Hormone Deficiency, sensory neuropathy, 616007 1 309585 Wilson-Turner syndrome 3 sensorineural hearing loss, skeletal dysplasia

300004 Proud syndrome 3 225500 Ellis-van Creveld syndrome 1

615715 Bone marrow failure syndrome 2 3 614019 Lissencephaly 4 1

616364 White-Sutton syndrome 2 614819 Weill-Marchesani Syndrome 3 1

249420 Frank-ter Haar syndrome 2 615191 Lissencephaly 5 1

150250 Larsen syndrome 2 Multiple joint dislocations, short stature, craniofacial dysmorphism, 245600 1 613706 Noonan syndrome 7 2 and congenital heart defects

216340 Yunis-Varon Syndrome 2 613078 Nijmegen breakage syndrome-like disorder 1

604757 Craniosynostosis, type 2 2 613330 Spondylo-megaepiphyseal-metaphyseal dysplasia 1

113100 Brachydactyly, type C 2 Caudal regression syndrome/Sacral defect with anterior 600145 1 218040 Costello syndrome 2 meningocele

309500 Renpenning Syndrome 1 2 613712 Hirschsprung Disease, Susceptibility To, 4 1

612313 Glass syndrome 2 609942 Noonan syndrome 3 1

304110 Craniofrontonasal dysplasia 2 607196 Microcephaly, Amish type 1

615485 Bainbridge-Ropers syndrome 2 Congenital contractures of the limbs and face, hypotonia, and 616266 1 139210 Myhre syndrome 2 developmental delay

245150 Keutel syndrome 2 157170 Holoprosencephaly 2 1

268310 Robinow syndrome, autosomal recessive 2 100300 Adams-Oliver syndrome 1 1

606744 Seckel syndrome 2 2 Proliferative vasculopathy and hydraencephaly-hydrocephaly 225790 1 183900 Spondyloepiphyseal dysplasia, congenital type 2 syndrome

614728 Seckel syndrome 6 2 613224 Noonan syndrome 6 1

142945 Holoprosencephaly 3 2 129400 Rapp-Hodgkin syndrome 1

182230 Septooptic dysplasia 2 154780 Marshall syndrome 1

614114 Mosaic variegated aneuploidy syndrome 2 2 215150 Otospondylomegaepiphyseal dysplasia 1

277170 Orofaciodigital syndrome VI 2 101800 Acrodysostosis 1 With Or Without Hormone Resistance 1 123500 Crouzon syndrome 2 605376 Heterotaxy, visceral, 2, autosomal 1

Noonan syndrome-like disorder with or without juvenile 607721 Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 613563 2 myelomonocytic leukemia 613870 Hirschsprung disease, cardiac defects, and autonomic dysfunction 1

22 Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016

OMIM Name TOTAL OMIM Name TOTAL

230740 Gapo syndrome 1 105600 Dyserythropoietic anemia, congenital, type III 3

600155 Hirschsprung disease, susceptibility to, 2 1 202400 Afibrinogenemia, congenital 3

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus 301310 Anemia, Sideroblastic, and Spinocerebellar Ataxia 3 603387 1 Syndrome 616004 Dysfibrinogenemia, congenital 3

154500 Treacher collins syndrome 1 1 Hemolytic anemia, CD59-mediated, with or without immune- 612300 3 606217 Atrioventricular septal defect, partial, with heterotaxy syndrome 1 mediated polyneuropathy

118100 Klippel-feil syndrome 1, autosomal dominant 1 613554 Von Willebrand Disease, Type 2 3

300582 Short stature, idiopathic familial, X-linked 1 612561 Diamond-Blackfan anemia 6 3

156550 Kniest dysplasia 1 153640 Fechtner syndrome 2

615633 Short-rib thoracic dysplasia 11 with or without polydactyly 1 182900 Spherocytosis, type 1 2

Popliteal pterygium syndrome 2, lethal type/ Bartsocas-Papas 612416 Factor XI deficiency 2 263650 1 syndrome 202700 Neutropenia, severe congenital 1, autosomal dominant 2

Congenital Lipomatous Overgrowth, Vascular Malformations, And 613309 Diamond-Blackfan anemia 10 2 612918 1 Epidermal Nevi 187800 Bleeding disorder, platelet-type, 16, autosomal dominant 2

601536 Bosley-Salih-Alorainy syndrome 1 613977 Cyanosis, transient neonatal 2

239300 Hyperphosphatasia with mental retardation syndrome type 1 1 261000 Intrinsic factor deficiency 2

602849 Muenke syndrome 1 604498 Thrombocytopenia, congenital amegakaryocytic 2

614669 Auriculocondylar syndrome 2 1 155100 May-Hegglin anomaly 2

151100 LEOPARD syndrome 1 1 227600 Factor X deficiency 2

600121 Chondrodysplasia punctata, rhizomelic, type 3 1 141749 Delta-beta thalassemia 1

266280 RAPADILINO syndrome 1 308240 Lymphoproliferative Syndrome, X-Linked, 1 1

603358 GRACILE syndrome 1 614521 Thrombocythemia 3 1

614326 Feingold syndrome 2 1 273800 Glanzmann thrombasthenia 1

615031 Spastic paraplegia 49, autosomal recessive 1 615631 Dyserythropoietic anemia, congenital, type Ib 1

610759 Cornelia de Lange syndrome 3 1 133100 Erythrocytosis, somatic 1

610536 Mandibulofacial dysostosis, Guion-Almeida type 1 601977 Thrombocythemia 2 1

12. Haematological disorders 614742 Bone marrow failure, telomere-related, 1 1

TOTAL 345 162800 Neutropenia, cyclic 1

604131 Thalassemia, alpha- 51 612562 Diamond-Blackfan anemia 7 1

613985 Thalassemias, beta- 47 612563 Diamond-Blackfan anemia 8 1

300908 Hemolytic anemia due to G6PD deficiency 38 613225 Factor XIIIA deficiency 1

603903 Sickle cell anemia 28 613329 Plasminogen activator inhibitor-1 deficiency 1

261100 Megaloblastic anemia-1 22 300299 Neutropenia, severe congenital, X-linked 1

260400 Shwachman-Bodian-Diamond syndrome 16 602782 Histiocytosis-lymphadenopathy plus syndrome 1 306700 Hemophilia A 14 21077 270970 Spherocytosis, type 3 11

616649 Spherocytosis, type 2 7

188000 Thrombocytopenia-2 6

274150 Thrombotic thrombocytopenic purpura, familial 6

193400 von Willebrand disease, type 1 6

249270 Thiamine-responsive megaloblastic anemia syndrome 5

217090 Plasminogen deficiency, type I 5

601399 Platelet disorder, familial, with associated myeloid malignancy 5

306900 Hemophilia B 5

227400 Factor V deficiency 4

610035 Severe congenital neutropenia type 5 4

227500 Factor VII Deficiency 4

105650 Diamond-Blackfan anemia 1 3

23