Glucocortocoid-insensitive primary hyperaldosteronism Absence of alpha granules Dexamethasone-suppresible primary hyperaldosteronism

Abnormal number of alpha granules Primary hyperaldosteronism Nasogastric tube feeding in infancy Abnormal alpha granule content Poor suck Nasal regurgitation Gastrostomy tube feeding in infancy Abnormal alpha granule distribution

Lumbar interpedicular narrowing Secondary hyperaldosteronism Abnormal number of dense granules

Abnormal denseAbnormal granule content alpha granules Feeding difficulties in infancy

Primary hypercorticolismSecondary hypercorticolism

Hypoplastic L5 vertebral pedicle Caudal interpedicular narrowing Hyperaldosteronism Projectile vomiting Abnormal dense granules Episodic vomiting

Lower thoracicThoracolumbar interpediculate interpediculate narrowness narrowness Hypercortisolism Chronic diarrhea Intermittent diarrhea

Delayed self-feeding during toddler Hypoplastic vertebral pedicle years Intractable diarrhea Corticotropin-releasing Protracted diarrhea Enlarged vertebral pedicles Vomiting Secretory diarrhea (CRH) deficient Adrenocorticotropinadrenal insufficiency (ACTH) Semantic dementia receptor (ACTHR) defect Hypoaldosteronism

Narrow vertebral interpedicular Adrenocorticotropin (ACTH) distance Hypocortisolemia deficient adrenal insufficiency Crohn's disease Abnormal platelet granules Ulcerative colitis Patchy atrophy of the retinal pigment epithelium Corticotropin-releasing hormone Chronic tubulointerstitial nephritis Single isolated congenital Nausea Diarrhea Hyperactive bowel sounds receptor (CRHR) defect Cortical pulverulent cataract Chronic atrophic gastritis hypertrophy of retinal pigment Feeding difficulties Meconium ileus Central adrenal insufficiency Abnormal vertebral pedicle epitheliumMultiple bilateral congenital hypertrophy of retinal pigment Acute tubulointerstitial nephritis Decreased platelet P2Y12 receptor morphology Hypoactive bowel sounds Primary adrenal insufficiency epithelium Lack of bowel sounds Bowel incontinence Retinitis pigmentosa inversa Pericentral retinitis pigmentosa Adrenal overactivity Acute constipation Abdominal colic Tenesmus Frontotemporal dementia Decreased platelet glycoprotein Bowel urgency Chronic constipation Ib-IX-VDecreased platelet glycoprotein IIb-IIIa Protuberant abdomen Pulverulent Cataract Tubulointerstitial nephritis Colonic inertia Decreased plateletRetinal glycoprotein pigment VI epithelial atrophy Nausea and vomiting Flank pain Juvenile posterior subcapsular Chronic colitis Episodic abdominal pain lenticular opacities Widened interpedicular distance Aculeiform cataract Congenital hypertrophy of retinal Diffuse nuclear cataract Iridescent posterior subcapsular Duodenal ulcer Frontolimbic dementia pigment epithelium Abnormal bowel sounds Mechanical ileus Chronic gastritis cataract Tubulointerstitial fibrosis Meckel diverticulum Subcortical dementia Rarefaction of retinal pigmentation Butterfly vertebral arch Nuclear pulverulentNuclear cataract punctate cataract Frontal lobe dementia Duodenal atrophy Distal ileal atresia Focal segmental glomerulosclerosis Depigmented lesions of the retinal Triangular nuclear cataract Global glomerulosclerosis pigment epithelium Abdominal pain Lamellar pulverulent cataract Abnormal platelet membrane protein Constipation Adrenal insufficiency Abnormal large intestine physiology Decreased retinal pigmentation with Pancreatic aplasia Abnormal dense tubular system dispersion expressionLacunar retinal depigmentation Jejunoileal ulceration Paralytic ileus Retinitis pigmentosa Posterior subcapsular cataract Jejunal diverticula Pancreatic hypoplasia Abdominal distention Global proximal tubulopathy GM2-ganglioside accumulationIncreased serum Giant hypertrophic gastritis Salt and pepper retinopathy Duodenal stenosis Punctate cataract beta-hexosaminidase Progressive language deterioration Dense posterior cortical cataract Abnormal platelet shape Achromatic retinal patches Nuclear cataract Microcolon Anterior wedging ofDiffuse L2 mesangial sclerosis Cleft vertebral arch Non-acidotic proximal tubulopathy Duodenal diverticula Hypoplastic colon Jejunoileal diverticula Vertebral arch anomaly Pigmentary retinal deposits Poor appetite Impaired collagen-induced platelet Progressive psychomotor Fishnet retinalLarge pigmentation hyperpigmented retinal spots Impaired thrombin-induced platelet Posterior cortical cataract Rapid neurologic deteriorationdeterioration aggregation Anterior subcapsular cataract Tubulointerstitial abnormality Butterfly retinal pigment epithelial aggregation Lamellar cataract Abnormality of the duodenum Abnormal surface-connected open Villous atrophy canalicular system dystrophy Protein avoidance Cerulean cataract PosteriorProtanopia wedging of vertebral Anorexia Abnormality of the ileum Dementia Deuteranopia Malnutrition Impaired thromboxane A2Impaired arachidonic acid-induced bodiesAnterior wedging of L1 Impaired epinephrine-inducedImpaired ADP-induced platelet Hyperfibrinogenemia Decreased beta-glucocerebrosidase Duodenal polyposis Mesangial proliferation agonist-induced platelet platelet aggregation Dysfibrinogenemia Protanomaly Anterior wedging of T12 platelet aggregation aggregation Ileal atresia UreterovesicalUreteropelvic stenosis junction obstructionprotein and activity aggregation Hypopigmentation of the fundus Coralliform cataract Cortical cataract Portal vein thrombosis Steatorrhea Posteriorly placed anus Hypofibrinogenemia Anterior cortical cataract Hepatic vein thrombosis Proximal tubulopathy Abnormality of the jejunum Aplasia/Hypoplasia of the pancreas Small intestinal stenosis Anterior wedging of T11 Anteriorly placed anus Deuteranomoly Glomerulosclerosis Subcapsular cataract High intestinal obstruction Gastritis Pseudohypoaldosteronism Mesenteric venous thrombosis Congenital nuclear cataract Anterior clefting ofMesangial vertebral bodiesabnormality Abnormal platelet morphology Small bowel diverticula Ileus Impaired neutrophil killing of Abnormality of ganglioside Butterfly vertebrae Negative nitroblue tetrazolium (NBT) Partial duplicationComplete of the duplication distal of the distal Duodenal atresia Tritanomaly staphylococci Posterior Y-sutural cataract metabolism Hyperpigmentation of the fundusreduction test Zonular cataract phalanx of thephalanx 5th toe of the 5th toe Multiple smallAplasia/Hypoplasia bowel atresias of the colon Sutural cataract Chronic CSF lymphocytosisTubular atrophy Abnormality of small intestinal villus Abdominal symptom Jejunal atresia Neonatal intestinal obstruction Acute colitis Impaired platelet aggregation morphology Colitis Progressive neurologic deterioration Anterior rounding of vertebralCoronal bodies cleft vertebrae Factor X activation deficiency Peripheral retinal pigmentation Impaired platelet Abnormality of circulating fibrinogen Nonnuclear polymorphic congenital Protein-losing enteropathy abnormalities Giant platelets Agenesis of the small intestine Red-green dyschromatopsia Microsaccadic pursuit cataract Superficial thrombophlebitis Tubular basement membrane Acute tubular necrosis Colonic varices Renotubular dysgenesis Colon cancer Diffuse glomerular basement Vertebral wedging Complete duplication of the disintegration Midgut malrotation Chronic intestinal candidiasis Absent smooth pursuit Recurrent thrombophlebitis Stercoral ulcer Thickening of themembrane glomerular lamellation proximal phalanx of the 5th toe Dichromacy Intermittent microsaccadic pursuits Partial duplication of the proximalPartial duplicationComplete of the duplicationmiddle of the middle Glomerulopathy Posterior polar cataract Abnormality of cerebrosidase basement membrane Partial duplication of thephalanx distal of the 5th toe phalanx of the 5thphalanx toe of the 5th toe Colonic stenosis Fat malabsorption Colonic atresia metabolism Multiple glomerular cysts Recurrent vulvovaginal candidiasis Increased sialylation of N-linked Splanchnic vein thrombosis phalanx of the 3rd toe Small intestinal polyposisAnterior beaking of lumbar vertebraeThin glomerular basement Malrotation of small bowel IgA deposition in the glomerulus Ectopic anus Abnormality of adrenal physiology Hypoplasia of the small intestine membraneLobular glomerulopathy Pancreatic hyperplasia protein glycosylation Lactose intolerance Hyperplastic colonic polyposis Hyposegmentation of neutrophil Impaired horizontal smooth pursuit Reduced factor X activity Anterior pyramidal cataract Complete duplication of the distal Complete duplication of the middle Decreased sialylation of N-linked Complete duplication of the Ureteral stenosis Renal juxtaglomerular cell Chronic oral candidiasis nuclei Secretory adrenocortical adenoma Reduced factor XIII activity Anterior polar cataract phalanx of the 3rd toe phalanx of the 3rd toeDuplication of the distal phalanx of Anterior beaking of thoracic Abnormal platelet function Type I transferrin isoform profile protein glycosylation Partial duplication of the middle Bullet-shaped distal phalanx of the proximal phalanx of the hallux Colonic diverticulosisMalrotation of colon Anomalous trichromacy Impaired neutrophil bactericidal Non-secretory adrenocortical Juvenile zonular cataracts Recurrent deep vein thrombosis vertebrae hypertrophy/hyperplasia Increased neutrophil nuclear Congenital cataract Polar cataract phalanx of the 3rd toeBullet-shaped middle phalanxthe 5th toe of5th the toe Osteolytic defects of the middle Enterocolitis Beaking of vertebral bodies T12-L3 Glomerulomegaly Cuboid-shaped thoracolumbar activity adenoma Type II transferrin isoform profile Osteolytic defects of the proximal projections Elevated factor V activity Complete duplication of theBullet-shaped middle phalanx5th toe of the phalanx of the 3rd toe Hypoperistalsis vertebral bodies Partial duplication of the proximal phalanx of the 3rd toe Abnormal retinal pigmentation Type A1 brachydactyly proximal phalanx of the 3rd toe 3rd toe Partial duplication of the middlephalanx of the 3rd toe Osteolytic defects of the distal Adenomatous colonic polyposis Vertebral clefting Anal fissure Recurrent Staphylococcus aureus Partial IgA deficiency Thrombophlebitis Bullet-shaped distal phalanx of the Small intestinal dysmotility Enuresis diurna Absent spinous processes of lower Increased mean platelet volume Absent neutrophil specific granules Decreased fucosylation of N-linked phalanx of the 4th toe Shortening of all middle phalanges Anterior beaking of lower thoracic C3 nephropathy Hypersegmentation of neutrophil 3rd toe phalanx of the 3rd toe 2nd-5th toe middle phalangeal Ovoid thoracolumbar vertebrae thoracic and lumbar vertebrae Impaired ristocetin-induced platelet protein glycosylation Juvenile cortical cataract of the toes Intestinal obstruction vertebrae Anal atresia nuclei Reduced factor V activity Complete duplication of the Abnormality of the renal tubuleOsteolytic defects ofComplete the distalOsteolytic duplication defects of hallux of the distalhypoplasia Intestinal atresia Hyperperistalsis Discrete intestinal polyps Saccadic smooth pursuit aggregation Increased fucosylation of N-linked Abnormality of the small intestine Anal canal squamous carcinoma Neutrophil inclusion bodies proximal phalanx of the 4th toe Duplication of the proximal phalanx phalanxComplete of the duplication 4th toe of phalanxthe distal Neoplasm of the colon Anal stenosis Loss of subcutaneous adipose Impaired smooth pursuit Secretory IgA deficiency protein glycosylation Partial duplication ofDuplication the proximal of the distal phalanx of phalanx of the 5th toe Chronic mucocutaneous candidiasis Blue cone monochromacy Complete duplication of the middle of the 5th toe tissue from upper limbs Abnormal sialylation of N-linked Brachytelomesophalangy phalanx of the hallux IntestinalAbnormality hypoplasia of the large intestine Anterior scalloping of vertebral Anal mucosal Recurrent mycobacterium avium Abnormality of the common phalanx of the 4th toe phalanx of the 4th toe the 3rd toe Bullet-shaped proximal phalanx of Bowel diverticulosisIntestinal malrotation Decreased mean platelet volume Polyclonal elevation of IgM Slitlike anterior chamber angles in Juvenile cataract Osteolytic defects of the proximal Gastric ulcer Abnormality of the glomerulus bodies complex infections coagulation pathway protein glycosylation Membranous cataract Type A brachydactyly the 5th toe Osteolytic defects of the middle PyloricEnuresis stenosis nocturna children Highly elevated creatine Abnormal isoelectric focusing of Bullet-shaped proximalDuplication phalanxDuplication of of the middle of the phalanxphalanges of of thephalanx of the 4th toe Osteolytic defects of the middle Posterior scalloping of vertebral Perianal rash Deep venous thrombosis phalanx of the 4th toe Colorectal polyposis Beaking of vertebral bodies Abnormal pancreas size Congenital adrenal hyperplasia Total immunoglobulin A deficiency Posterior synechiae of the anterior Elevated creatine kinasephosphokinase after serum transferrin Type B brachydactyly theCSF 3rd lymphocytic toe pleiocytosisthe 5th toe TallIncreased lumbar vertebral anterior vertebralbodiesbodies height Presenile cataracts Duplication of the middle phalanx of5th toe Osteolytic defects of thephalanx proximal of the 5th toe Adrenocortical adenoma Increased mannosylation of N-linked Posterior capsular cataract Type D brachydactyly Malabsorption Reduction of neutrophil motility chamber exercise the 3rd toe Curved distal phalanx of the 5th toe phalanx of the 5th toe Functional intestinal obstruction Ovoid vertebral bodies Anterior synechiae of the anterior protein glycosylation Age-related nuclear cataract Type A2 brachydactylyCerebral venous thrombosis Progressive cataract Bullet-shaped middle phalanx of the of the large intestine chamber Abnormal fucosylation of protein 4th toe Cuboid-shaped vertebral bodies Extremely elevated creatine N-linked glycosylation Type E brachydactyly Duplication Bullet-shapedof the proximal proximal phalanx phalanx of Onychomycosis Adrenal medullary hypoplasia Mildly elevated creatine Partial duplication of the proximal Rectal polyposis Abnormality of the vertebral spinous Abnormality of neutrophil phosphokinase Duplication of the middle phalanxof the of3rd toethe 4th toe Bullet-shaped 3rd toe phalanx Duplication ofShortening the proximal of allphalanx distal phalanges of Stress urinary incontinenceCongenital pyloric atresia Increased IgM level phosphokinase Decreased mannosylation of Capsular cataract Type C brachydactyly phalanx of the 3-4hallux toe syndactyly Large intestinal polyposis processes Recurrent cutaneous fungal morphology the 4th toe of the hallux the toes Osseous syndactyly of toes Recurrent Aspergillus infections Congenital adrenal hypoplasia Recurrent E. coli infections N-linked protein glycosylation Bullet-shaped 5th toe phalanxDuplication of distal phalanx of toe Recurrent infantile hypoglycemia Psychomotor deterioration infections Ulnar deviated club hands Age-related posterior subcapsular Partial duplication of the middle Curved proximal phalanx of the 3rd Osteolytic defects of the phalanges DuplicatedGastrointestinal colon dysmotility Trapezoidal shaped vertebral bodies Increased IgE Recurrentlevel mycobacterial infections MacronodularPigmented adrenal hyperplasia micronodular Reduced quantity of Von Willebrand cataract Abnormality of glycosphingolipid Recurrent candida infections Increased IgG level agenesis IgA deficiency Age-related cataract phalanx of the 2nd toe toe of the 3rd toe Partial duplication of the distal Enuresis Dyschromatopsia factor Abnormal mannosylation of N-linked Partial duplication of phalanx of the Duplication of the proximal phalanx Duplication of the distal phalanx1-5 toe of syndactyly Abnormality of the gastric mucosa Increased vertebral heightAsymmetry of spinal facet joints adrenocortical disease Cataract Unilateral brachydactyly Bullet-shaped proximal toe phalanxBullet-shaped proximal phalanx of phalanx of the hallux metabolism Decreased galactosylationprotein of glycosylation 2nd toe Bullet-shaped Partialdistal phalanx duplication of the of theof thedistal 4thBrachydactyly toe CurvedDuplication syndrome middle phalanx of phalanx of the of 3rdthe toe3rd toe the hallux Abnormality of the anus Elevated CSF dopamine level the hallux Intestinal pseudo-obstruction Increased fucosylation of O-linkedN-linked protein glycosylation 4th toephalanx of the 2nd toe 1-2 toe syndactyly Anterior concavity of thoracic Loss of subcutaneous adipose Recurrent staphylococcal infections Reduced factor VII activity 2-5 toe syndactyly Tongue-like lumbar vertebral Abnormal platelet volume Rod monochromacy Cone monochromacy Adrenocortical hypoplasia protein glycosylation Motor deterioration vertebrae Enteroviral dermatomyositis Impaired pursuit initiation and Immunoglobulin IgG2 deficiency Total cataract Partial duplication of the distal Duplication of proximalBullet-shaped phalanx middleof toe phalanx Short middle phalanx of toe Volvulus Social and occupational deformitiesPear-shaped vertebrae tissue in limbs IncreasedIncreased IgA level alpha-globulin Adrenocortical carcinoma Pigment deposition in the trabecular Age-related cortical cataract Duplication of the distal phalanx of Osteolytic defects of the phalanges2-3 toe syndactyly 1-4 toe syndactyly Biconcave vertebral bodies syndrome Abnormality of neutrophil physiology maintenance Decreased fucosylation of O-linked phalanx of the 4th toe Curved toemiddle phalanx of the 5th toe Intestinal lymphangiectasia Intestinal polyposisdeterioration Bifid thoracic vertebrae meshwork the 2nd toe CSF polymorphonuclear pleocytosis of the 5th toe 1-3 toe syndactyly Neoplasm of the rectum Jerky ocular pursuit movements protein glycosylation Venous thrombosis Duplication of phalanx of toe OsteolyticBullet-shaped defects of distal the phalanges phalanx of the Patchy distortion of vertebrae Chronic furunculosis Recurrent systemic pyogenic Recurrent Klebsiella infections Complete duplication of the distal Reduced CSF dopamine level Bullet-shaped distal toe phalanx Acroosteolysis of distal phalanges Pollakisuria Recurrent viral skin infections ElevatedAbnormality serum creatine of von Willebrand factor Complete duplication of the middle Curved proximal phalanxAbnormality of the 5th of the distal phalanxof the of 4th toe 2-4 toe syndactyly Irregularity of vertebral bodies infections phalanx of the 2nd toe Curved proximal phalanx of thehallux Gastrointestinal inflammation Disc-like vertebral bodies Biconvex vertebral bodies phosphokinase toe the 5th toe (feet) 3-5 toe syndactyly Intussusception Comodogenic acne Lack of subcutaneous fatty tissue Pyoderma Adrenal hyperplasia phalanx of the 2nd toe Duplication of the middle phalanxReduced of CSF lactate Curved distal phalanx of Curvedthe 3rdDuplication toedistal toe phalanx of middleCurved phalanx 5th toe phalanxof toe hallux Duplication of phalanx of hallux Intestinal lymphoid nodularMembranous choanal atresia Sandwich appearance of vertebral Adrenal hypoplasia Superior lens subluxation Peptic ulcer Urinary incontinence Absent retinal pigment epithelium Anterior chamber synechiae Reduced protein C activity the 2nd toe hyperplasia Eczematoid dermatitis bodies IgM deficiency IgG deficiency Recurrent Serratia marcescens Partial duplication of the proximal Duplication of phalanxBullet-shaped of the 4th proximal toe phalanx of Curved distal phalanx of the hallux Urinary urgency Precocious puberty in males Recurrent gram-negative bacterial Abnormal protein N-linked Duplication of the phalangesBullet-shaped of the 4th toe phalanx Short 3rd toe Ulnar deviation of thumb infections Resistance to activated proteinAbnormality C of the extrinsic pathway Trophic limb changes phalanx of Completethe 2nd toe duplication of the the 2nd Curvedtoe Curved 3rdAbnormality proximaltoe phalanx toeof the phalanx middle phalanx Short 2nd toe Gastrointestinal obstruction Anisospondyly infections glycosylation Decreased sialylation of O-linked Duplication of the distal phalanxIncreased of CSF lactate2nd toe Curved proximal phalanx ofBullet-shapedOsteolytic the 2nd defects toe phalanxof the proximal 4-5 toe syndactylyShortPosterior 5th toe choanal atresia Absence of subcutaneous fat Impaired ristocetin cofactor assay Prolonged prothrombin time phalanges of the 2nd toe of the 3rd toe Partial duplication of the phalanges Papillary renal cell carcinoma type 2 protein glycosylation Curved distal phalanx of the 4th toe toe phalanx of the 2nd toe Short proximal phalanx of toe Bilateral choanal atresia Dysgammaglobulinemia activity Inferior lens subluxation the 4th toe Bullet-shapedTriangular hallux shaped phalanx middle phalanges of the hallux Mental deterioration PigmentaryLoss retinal of retinal degeneration pigment epithelium Loss of truncal subcutaneous Transient hypogammaglobulinemia Pain insensitivity Complete duplication of the distal Abnormality of the pylorus Loss of gluteal subcutaneous AdrenocorticalPanhypogammaglobulinemia abnormality Reduced prothrombin activity Curved middle phalanx of the 4th toe Curved Abnormalitydistal phalanx of ofthe the distal 2nd phalanxtoe of Triangular shapedof proximalthe toes Episodic hypokalemia Dysuria Recurrent enteroviral infections adipose tissue Accessory ectopic thyroidLingual tissue Reduced von WillebrandReduced factor antithrombin III activity phalanx of the 4th toe Abnormality of the proximal phalanx Recurrent hypoglycemia adipose tissue Adrenal gland dysgenesis of infancy the 3rd toe phalanges of the toesTriangular shaped distal phalanges Esophageal stricture Neurogenic bladder Bilateral coxa valga activity Abnormal fucosylation of O-linked CurvedAbnormality middle of toethe phalanxproximal phalanx Osteolytic defectShort of distal the proximalphalanx oftoe toe Short 4th toe Seborrheic dermatitis Recurrent fungal infections Impaired von Willibrand factor Complete duplication of the Abnormalityof of the the 5th middle toe phalanx Osteolyticof theTriangular toes defects shaped of theAcroosteolysis proximal distal phalanx (feet) Generalized seborrheic dermatitis Wafer-thin platyspondyly Pancreatic fistulaPancreatic pseudocyst Ectopic adrenal gland Recurrent BurkholderiaShallow cepacia anterior chamber of the 3rd toe Small intestinal bleedingUreteralBilateral obstructionchoanal atresia/stenosis Acne inversa Postaxial oligodactyly ShorteningDistally placed of all distalthumb phalanges of collagen binding activity protein glycosylation proximal phalanx of the 2nd toe Bullet-shaped 2nd toeOsteolytic phalanx defects of theCurved distal toe phalanxof the 5th toe phalanx phalanges ofof the the toes hallux Ectopic pancreatic tissue Proximal placement of thumb infections Reduced prothrombin consumption Duplication of the proximal phalanx Curved hallux2-3 phalanx toe cutaneous syndactyly Intestinal duplication Papillary renal cell carcinoma type 1 the fingers Abnormality of the trabecular Abnormality of prothrombin Long-segment aganglionic phalanxOsteolytic of the 2nddefectsShort toe proximal of the phalanges phalanx of hallux Membranoproliferative Dense deposit disease Transitional atrioventricular canal Enhanced ristocetin cofactor assay of the 2nd toe Proximal esophageal atresia NocturiaUrinary hesitancy Spastic/hyperactive bladder Slowed horizontal saccades Coronary sinus atrial septal defect Recurrent Neisserialmeshwork infections Short distal phalanxCurved of the 3rdmiddle toe phalanx ofTriangular Curvedthe 2ndBullet-shaped 2nd shaped toe phalanx distal distal phalanx phalanx of of of the the 2nd toe Triangular shaped distal phalanx of Membranous nephropathy Hereditary nonpolyposis colorectal Abnormal form of the vertebral Pancreatic cysts Ulnar deviationHypergammaglobulinemia of the 5th finger Precocious puberty in females Atrioventricular canalAbnormality defect with of ocular smooth pursuit defect activity Absence of large von Willibrand megacolon Short middle phalanx of the 5th toe Triangular shaped middleTriangular phalanx of shaped proximal phalanx Osteolytic defects of the middle Minimalglomerulonephritis change glomerulonephritis Crescentic glomerulonephritis Congenital exfoliative erythrodermaSusceptibility to chickenpox MonodactylyUnilateral (hands) oligodactyly AnnularHyperechogenic pancreas Pancreatic pancreas lymphangiectasis Abnormal von Willebrand Factor Short-segment aganglionic Abnormality of the middle 2ndphalanx toe Broad distal phalanx of the 5th toe the hallux carcinoma bodies Susceptibility to coronavirus 229e Ulnar deviation of the 2nd finger Adrenocorticalright cytomegaly ventriclePartial atrioventricularaorta and pulmonary canal defect factor multimers Curvedtoe proximal phalanxthe 2ndof the toe 4th of the 2nd toe Abnormality of the proximalphalanges phalanx of the toes Recurrent skin infections multimerAbnormal distribution sialylation of O-linked of the 4th toe the 2nd toe Abnormality of the distal phalanges Toe syndactyly Perioral eczema Late onset atopic dermatitis Prolonged bleeding time atresia CompleteComplete duplication duplication of the of the distal Complete duplication of the distal megacolon Bullet-shaped middle phalanx of the Curved 4th toe phalanx Broad middle phalanxof ofthe the hallux 5th toe Recurrent bacterial infections IgE deficiency Absent anterior eye chamber Reduced protein S activity protein glycosylation Midline nasal groove toe of the toes Morbilliform rash phalanx of the 5th finger Recurrent Haemophilus influenzae Absent fourth finger distal 2nd toe Osteolytic defectsAbnormality of the ofAbnormality middle the distal phalanxof the middle of phalanges Urinary retention Severe recurrent varicella Pancreatic dysplasiaUlnar deviationUlnar of deviation the hand of the 3rd finger proximal phalanxphalanx of of the the 5th 3rd finger finger Abnormality of toeBroad proximalBroad middle phalanx distal phalanx phalanxAbnormality of the of the3rd 3rd toeof the toe distal phalanx of Neoplasm of the large intestine Premature pubarche infections interphalangeal crease Total colonic aganglionosis Abnormality ofAbnormality the distal phalanx ofphalanx the proximalof of the 2ndphalanx toe of the toes Recurrent bacterial skin infections Isosexual precocious puberty Unilateral narrow palpebral fissure AbsenceAbnormal of intermediate presence von of ultra-large Short proximal phalanx of the 3rd toe the 2nd toe the hallux Triangular shaped distal phalanx of Abnormality of the intestine sphincter Severe viral infections Clinodactyly ofPancreatic the 2nd finger fibrosis Premature thelarche Complete duplication of the the 4th toe Hypoketotic hypoglycemiaNeonatal hypoglycemia Hyperconvex vertebral body Biconcave flattened vertebrae Postaxial polydactyly type A Ulnar deviation of the 4th finger Partial duplication of the proximal Palpebral fissure narrowing on Aplasia/hypoplasia of the proximalof the 4th toe Symphalangism affecting1-2 toe the complete distal cutaneous dysfunction Rudimentary postaxial polydactyly Decreased T3/T4 ratio Shortening of all proximal phalanges Neoplasm of the Intermediate atrioventricularphalanges canal of the 5th finger Partial duplication of the distal Willibrandvon factor Willebrand multimers Factor multimers Bifid nose Short distal phalanx of the 5th toe Shortening of all phalanges of the Short toethe 5th toe endplates Helicobacter pylori Acne Bilateral postaxialSevere polydactyly platyspondyly phalanxPartial of the duplication5th finger of the distal adduction Abnormality of the phalanges of the phalanges of the toessyndactyly of hands of the fingers Complete atrioventricular canal defectComplete duplication of the distal Recurrent meningococcal disease Lens subluxation Trophic changes related to pain phalanx of the 5th toe Broad proximal phalanxShort distal of the phalanx 3rd of hallux toes Unbalanced atrioventricular canal phalanx of the 4th finger phalanx of the 5th finger Abnormality of the coagulation Short middle phalanx of the 3rd toe Abnormality of the middleAbnormality phalanx of the proximal phalanx 5th toe Reactive hypoglycemiaGastrointestinal atresiaGastrointestinal infarctions Anal fistulaFrequent Giardia lamblia infestation Radial deviation of the thumb Complete duplicationdefectPartial of theduplication of the proximalphalanx of the 4th fingerPartial duplication of the phalanges MotorDecreased conduction motor block nerve conduction Impaired pain sensation Short phalanx of the 3rd toe Aplasia/Hypoplasia of the proximal Symphalangism affecting the middle Eczema Hypometric horizontal saccades Hypogammaglobulinemiadefect Partial duplication Completeof the distal duplication of the middle cascade of the 2nd toe Triangularof the 2nd shaped toe phalangesBroad of the proximal toe phalanx of the 2nd Radial deviation of the 5th finger Shortening of all middle phalanges proximal phalanx of the 3rdphalanx finger of the 3rd finger Absent distal interphalangeal velocity Impaired vibration sensation at Aganglionic megacolon Aplasia/Hypoplasia of the distal Abnormalityphalanx of the phalanges of the hallux of the Triangular shaped phalanges of the Thoracic platyspondyly Partial-completeShort distal absence phalanx of 5th of the 5th finger phalanx of the 3rd fingerof the 5th finger 2nd toe toe phalangesOsteolytic of theOsteolytic defects toes ofdefects the proximal of the distal Hypokalemia Clinodactyly of the thumb Partial duplication of the proximal phalanx of the 5th finger Axenfeld anomaly creases Total absence von Willebrand Factor ankles Aplasia/Hypoplasia of the middle toes Choanal atresia AchalasiaAbsence of intrinsic factor Gastric hypertrophy Perianal abscess phalanges of the fingers Reduced factor VIII activity Short proximal phalanx of the 5th toe phalanx of the 3rd toe 3rd toe Symphalangism affectingBroad the distal middle phalanx phalanx of the of thehallux hallux Microgastria Increased T3/T4 ratio Clinodactyly of the 5th finger Short proximal phalanx of the 2nd Complete duplicationphalanx of the of the 4th finger Complete duplication ofComplete the distal duplication of the distal phalanx of the 5th toe Osteolytic defectsphalanx of the of phalangesthe hallux Hyperkalemia Nonketotic hypoglycemia Abnormality of the vertebral Contracture of the Clinodactyly of the 4th finger Absent distal phalanges Partial duplication of the middle Ectopic thyroid multimers phalanxBroad of the proximal 2nd toe phalanx of the hallux Functional abnormality of the Clinodactyly of the 3rdShort finger pointedLackRadial phalanges of facial deviation subcutaneous of the 3rd fatfingerDeviation of the thumbfinger Complete duplicationphalanges of of the the 3rd finger phalanges of the handphalanx of the 2nd finger Corneolenticular adhesion Peters anomaly Abnormal CSF dopamine level Broad distalBroad phalanx proximal of the phalanx 2nd toe of the 5th of the toes metacarpophalangeal joint of the Short distal phalanx of the 2nd finger Partial duplicationComplete of the duplication phalangesphalanx of theof the 4th finger Single interphalangeal crease of fifth Aplasia/HypoplasiaAbnormalAplasia/hypoplasia CSF oflactate the distal level of proximal toe Short phalanx of hallux bladderGlomerulonephritis endplates Erythroderma Flattened moderately deformed Short distal phalanx of the 3rd finger proximal phalanx of the 4th finger Decreased sensory nerve Aplasia of the nose Short proximal phalanx of the 2ndShort phalanx of the 5th toeAplasia/Hypoplasia of the distal toe Symphalangism affecting the distal Abnormality of the retinal pigment4th finger Monochromacy of thephalanges 3rd finger of the 4th finger Complete duplication of the middle Deep anterior chamber finger phalanx Aplasia/Hypoplasia of the distal Gastric duplication Squared-off platyspondyly vertebrae Contracture of the distal CoronaryComplete sinus duplication diverticulum of distal Short distal phalanx toeof the 2nd toe phalanx of the 2nd toe CSF pleocytosis Skin rash epithelium Contracture of the Radial deviation of the 4th finger Short proximal phalanxShort of themiddle 4th phalanx of the 5th Partial duplication of the phalangesphalanx of the 4th finger conduction velocity Aplasia/hypoplasia of the proximalphalanx of the 5th toe Broad distal phalanxphalanx of the of 4th the toe hallux Cutaneous syndactyly ofphalanx toes of the 2nd toe Symphalangism affecting theKetotic distal hypoglycemia Papillary renal cell carcinoma Platyspondyly (childhood) Adiposeinterphalangeal tissue loss joint of the 2nd Ulnar deviation of finger phalanx of the thumbBifid distal phalanx of the thumb Aplasia/Hypoplasia of the phalanges Esophagitis metacarpophalangeal joint of the Decreased anterioposterior diameter finger finger DuplicationSpatulate of thumbsthe proximal phalanx Abnormal protein O-linked phalanx of the 3rd toe phalanx of the hallux Hyponatremia Oligodactyly (hands) finger Aplasia of the distal phalanx of the Partial duplicationPartial of ofthePartial duplicationthe proximal 4th duplication finger of the of middle the phalanx of Posterior lenticonus Spontaneous pain sensation Midline defect of the noseAbsent nasal septal cartilage Aplasia of the middle phalanx of the of the 5th toeBroad proximal phalanx of the 4th Abnormality of the phalanges of the Gastric varix Lumbar platyspondyly Slow saccadic eye movements5th finger of lumbar vertebralShortening bodies of all phalanges of fingers of the 5th finger Partial duplication of the distal Abnormal motor nerve conduction glycosylation Reduced factor IX activity Aplasia/Hypoplasia of the middle Anorectal anomalyGastrointestinal carcinoma Psoriasis Hypometric saccades Hypermetric saccadesContractureContracture of the of the 5th finger phalanges of thephalanx hand of theComplete 3rdhand finger duplication of the Partial duplication of the distal Reduced factor XI activity Bony paranasal bossing Aplasia/hypoplasia of theHypoplasia proximal5th toeof the phalanges ofAbnormality the Aplasia/HypoplasiaBroad of phalanx middle of phalanx theof the 2nd toedistal of the 4th toe Broad middle phalanges ofhallux the toes EsophagealEsophageal stenosis obstruction Radial deviation of the 2nd fingerAplasia/Hypoplasia of the distal Complete duplication of the phalanges of the hand velocity IntrahepaticIntrahepatic biliary dysgenesis bile duct cysts Paraphimosis Aplasia/Hypoplasia of the middle Broad phalanges of the 3rd toe Esophageal atresia Atopic dermatitis Ectopic accessory finger-like metacarpophalangealmetacarpophalangeal joint of thejoint of the Aplasia of the 5th finger phalanx of the 2nd finger phalanx ofphalanx the 2nd of toe the 3rd toe toes Abnormalityphalanges of ofthe the phalanges toes of the Broad proximal phalanx of toe Symphalangism affecting the ContractureDysmetric of the distal saccades Shortphalanx distal ofphalanx theAplasia/Hypoplasia 5th of finger the 4th finger of the middleproximal phalanges of the hand Duplicationphalanges of the distal of phalanxthe 2nd fingerof Triangular nasalDeviated tip nasal tip Aplasia/Hypoplasia of the middle phalanges of the toes toe Broad middle phalanx ofPatchy the 2nd sclerosis toe of theShort proximal hallux SymphalangismTriangular affecting theshaped phalanges of the Crusting erythematous dermatitis appendage 2nd finger3rd finger ShortAbsent 3rd middle finger phalanx of 5th finger Short middle phalanx of the 4th Partial duplication of the middle Aplasia/Hypoplasia of the phalanges 4th toe Triangular shaped phalanges of the Abnormality of theMalposition rectum of the stomach interphalangeal jointContracture of the 5th fingerof the distal Deviation of the 2nd finger SecundumComplete atrial septal duplication defecttheComplete 5thof phalanx finger duplication of of the middle Hypoplastic nasal septum Aplasia/Hypoplasiaphalanx of theof the 4th middle toe Abnormalityphalanx of the of phalanges theBroad hallux distal of the phalanx of the toes proximal phalanxhallux of the halluxChoanal stenosis Abnormality of pancreas morphology Aplasia of the distal phalanx phalanxof the of the 5thfinger finger Duplication of the distal phalanxComplete of duplication of the middle phalanx of the 5th finger Impaired vibration sensation in the Short distal phalanx of the 4th toe of the 3rd toe Absent hallux proximal phalanges of the5th toes toe Functional abnormality of the interphalangeal Specificjoint of the pneumococcal 4th finger antibody Absent phalangeal crease Anterior lenticonus Bifid nasal tip Aplasia of the proximalphalanx phalanx of the 2nd of toe Aplasia of the distal phalanx of the toes Broad phalanges of the 5th toe Esophageal duplication Intestinal Finger clinodactylyAbnormality of thrombocytesContractures of the Short 5thShort finger distal phalanx of finger phalanx of the 3rd fingerhand phalanges of the hand Reduced factor XII activity lower limbs Elevated follicle stimulating hormone Short phalanx of the 2nd toe Aplasia/Hypoplasia of the 3rd toe SymphalangismBroad hallux phalanx affecting theUreteral middle agenesis gastrointestinalSclerotic tract vertebral endplates Erythema nodosum deficiency Short3rd 2nd finger finger the 3rd finger Complete duplication of thumb Abnormality of the intrinsic pathway Impaired distal vibration sensation Congenital absence of foreskin the 5th toe Aplasia of the proximal phalanxhallux of Aplasia/Hypoplasia of the phalanges VesicoureteralMonodactyly refluxGastrointestinal (feet) duplication Erysipelas metacarpophalangeal joint ofDeviation theDeviation of theof the 3rd 5th finger fingerAplasia of the proximal phalanx of High maternal serum chorionic Short middle Aplasiaphalanx ofof thethe proximal 4th toe phalanx of phalanx of the 4th toe Short digit Multiple gastric polypsStomach cancer MirrorTegumentary image polydactyly leishmaniasis Short 4th finger AplasiaPrecocious of the proximal puberty phalanx of Duplication of the proximal phalanx phalanxComplete duplication of the middle Absent proximal phalanxAplasia/hypoplasia of the 3rd of the proximalthe hallux of the hallux 2-4 toe cutaneous syndactyly Proximal/middleOsteolytic symphalangism defects of of the phalanges Contracture of thethumb distal Deviation of the 4th finger the 4th finger Duplication of the middle phalanx ofDuplication of the middle phalanx of Complete duplication of proximal Medullary thyroid carcinoma Blepharophimosis Lens luxation Overhanging nasal tip gonadotropin Absent distal phalanx of Aplasiathe 3rd oftoe the distal phalanges of Broad phalanges of the 2nd toe Symphalangism affecting the susceptibility Postaxial hand polydactyly phalanx of the 2nd finger Restrictive partial external the 2nd toe toe phalanxAplasia/Hypoplasia of the 4th toe of the phalanges Symphalangism affecting the 2nd toe of the hallux PerifolliculitisMirror image hand polydactyly interphalangealSpecific anti-polysaccharide joint of the 3rd the 2nd fingerHitchhiker thumb Patentof foramen the 3rd ovalefinger the 3rd finger the 5th finger Dimple on nasal tip the toes phalanges of the toes Increased intracellular sodium Juvenile colonic polyposis Wide tufts of distal phalanges Activating thyroid-stimulating ShortAbsent middle middle phalanx phalanx of the of 3rd3rd finger Partial duplication ofphalanx thumb phalanx of the thumb Decreased nerve conductionophthalmoplegia velocity Elevated luteinizing hormone Duodenal aganglionosis Short middle phalanx of the 2nd toe of the 2nd toe Patchy sclerosis ofBroad the proximalphalanges of the 4th toe phalanges of the 2nd toe HydroureterCongenital megaureter Recurrent infectionDuodenal of the carcinoma Recurrent viral infections antibodyfinger deficiencyAplasia/Hypoplasia Aplasia of the of 5ththe finger2ndAplasia finger of the distal phalanx of the AbnormalityComplete of adrenal duplication morphology of the first Follicular thyroid carcinoma Short proximal phalanxShort of the phalanx 4th toe of the 4th toe Abnormality of potassium Hypernatremia Esophageal leukoplakia hormone receptor (TSHR)Inactivating defect thyroid-stimulating Small cervical vertebral bodies finger Duplication of phalanx of 5th fingerPartial duplicationPartial ofduplication the proximal of the phalanges Absent proximal finger flexion Lenticonus Prominent nasal tip Aplasia of the distal phalanx of the Aplasia/HypoplasiaPatchy sclerosisSclerosisPartial of theabsenceof themiddle5th proximal toephalanx of toe phalanxof the 2nd of toe Partial duplicationUreterocele of the 1st Gastric diverticulum Mirror image foot polydactyly Short proximal 2ndphalanx finger of fingerAplasia of theShort distal middle phalanx phalanx of the of the metacarpal2nd Duplication of the distal phalanx of Partial duplication of the Partialmiddle duplication of the middle Aplasia/Hypoplasia involving the Low maternalLow maternal serum PAPP-Aserum chorionic Aplasia/HypoplasiaAplasia/HypoplasiaAplasia of of the the phalanges distal of the of phalanges the 3rd Sclerosis of the distal phalanx of the homeostasis Contracturehormone ofCoxa the valgadistal receptor (TSHR) defect Atrioventricularphalanx ofcanal the defect2ndof thefinger 2nd finger creases Abolished vibration sense Underdeveloped nasal alae Absent distal5th toe phalanx of the 2nd toe the hallux 4th finger finger Primum atrial septalthe 4th defect finger Duplication of the distalphalanges phalanxRhomboid ofof the handor triangular phalanx shaped of the 5th2nd finger nose Hypoplasia of the nasal bone Aganglionosis of the small intestine Aplasia of the distal phalanx phalanxof the of the 4thof toe the 4th toephalanx of the 2nd toe hallux Hump-shaped mound of bone in metatarsal interphalangeal joints of the fingers Contractures of the Narrow anterio-posterior vertebral Duplication of phalanx of 3rd finger Anterior segment dysgenesis Abnormal levels of creatine kinase in Reduced number of intrahepatic bile gonadotropin Sclerosistoe of the distal phalanx of the SymphalangismTriangular shaped affecting phalanges theSymphalangism of the affectingSymphalangism the affecting the distal Congenital generalized lipodystrophy Radial deviationAplasia of finger of the 3rd finger Duplication of Duplicationthe proximal of phalanx the middle phalanx of Duplicationthe 2nd finger of the distal phalanxfinger middle ofBifid phalanx proximal phalanx of the thumb Fullness of paranasal tissue Aplasia of the nasal bone Phimosis 4th toe Sclerosis of middle toe phalanx centralUreteral and posterior atresia portions of Symphalangism affecting the distal Hand polydactyly carpometacarpal joint of the thumb body diameter Fifth finger distal phalanx Aplasia/Hypoplasia of the distalDuplication of the proximalBroad middle phalanx phalanx of the 5th Abnormality of the anteriorAnaplastic chamber thyroid carcinoma blood ducts Narrow nasal tip Flared nostrils Total intestinal aganglionosis Aplasia of the middle phalanges2nd toeof 3rd toe phalanges of the halluxphalanxSymphalangism of the 4th affecting toe the of the 4th fingerDuplicationthe 4th Completefinger of the distalduplication phalanx of theof the thumbBilateral triphalangeal thumbs Low maternal serum AplasiaAbsent of the middle proximal phalanx phalanx of theof 3rd toe Aplasia of the phalanges of the proximal phalanx of the 2nd toe Midnasalvertebral atresia endplateSymphalangism affectingphalanx the of distal the 3rd toe Aplasia of Shortthe proximal proximal phalanx phalanx ofShortclinodactyly of the middle 5th phalanx of fingerphalanges ofAplasia/Hypoplasia the handDuplication of of phalanx theof distal hand of 4th finger Short nose Aplasia of the middleAplasia phalanx of the phalangesof the of the 5th Patchy sclerosis of 3rd toe phalanx phalanges of the 5thHypoglycemia toe Adactyly fingerproximal phalanxhand of the 2nd fingerBroad distal phalanges of all fingers Hypoplastic nasal tip Pear-shaped nose the 4th toe the toes phalanx of theIrregular 5th toe scleroticEsophageal endplates ulceration Small intestinal polyp the 5th finger finger Short proximal phalanx of the 3rd Bullet-shaped distal phalanx of the Abnormal sensory nerve conduction Ectopia lentis Wide nose alpha-fetoprotein 4th toe toe hallux Symphalangism affecting the Abnormality of the stomach Aphalangy of theGeneralized hands lipodystrophy ShortPolydactyly phalanx affectingof finger the 3rd finger AbsentAgammaglobulinemia middle phalanx of 4th finger Bifidphalanx first ofmetacarpal the 4th finger Triangular shaped distal phalanx of Cutaneous T-cell lymphoma Aplasia/Hypoplasia of the 2nd toe Aplasia/Hypoplasia of the phalanges Preaxial hand polydactyly Aplasia/Hypoplasia of thefinger phalanges 3rd finger velocity Abnormality of pain sensation Absent toe Intestinal Spontaneousbleeding esophageal perforation Enlarged epiphysis of the distal PolydactylyAdducted affectingthumb the 2nd finger the 5th finger Heinz body anemia Abnormality of the nasal tip Thick nasal alae Patchy sclerosis of the middle Sclerosis of the proximaltoes phalanx of phalanges of the 3rd toe Oligodactyly (feet) Fragmentation of the epiphysis of Lipoatrophy Aplasia of the fingers Absent middle phalanx of 2ndof the finger 5thAplasia/Hypoplasia finger of the proximal Duplication of the middle phalanx ofOpposable triphalangeal thumb Aplasia/Hypoplasia of the nasal Aplasia of the phalanges of the 4th Triangular shaped phalanges of the Irregular vertebral endplates Intestinal polyp Preaxial polydactyly Platyspondyly Mesoaxial hand polydactyly Aplasia of the 4th finger Aplasia/Hypoplasia of the distal Broad distal phalanx of the 5th finger Thyroid hemiagenesisPapillary thyroid carcinoma Aplasia of the proximal phalanges of phalanx of the 3rd toe the 2nd toe Symphalangism affectingProximal/middle the symphalangism of the middle phalanx of the 3rdphalanx finger of the thumb Abnormal T3/T4 ratio Broad phalanges of the 5th finger Duplicationthe 2nd finger of the proximal phalanx Congenital hemolytic anemia Lentiglobus septum HighVentral maternal shortening serumLow of maternal foreskin serum estriol toe Oligodactyly Contractures of the interphalangeal Aplasia of the proximal phalanx of Aplasia/Hypoplasiaphalanxphalanx of the of 3rd theof thefinger distal 2nd finger Broad distal phalanx of the thumb Depressed nasal tip Anaplastic large-cell lymphoma Slender nose the toes Sclerosis of the middleSclerosis phalanx of distalof toePatchy phalanx sclerosis of 5th toe phalanx 4th toe Acute esophageal necrosisGastroesophageal reflux Cone-shaped epiphysis ofInflammatory the abnormality of the skin Joint contracture of the 5th finger of the thumb Drug-sensitive hemolytic anemia Cartilaginous ossification of nose Narrow nose alpha-fetoprotein Patchy sclerosis of middle toe phalanges of the 4th toe Symphalangism4th toe affectingDistal the middlesymphalangism (feet) Periventricular white matter PrecociousAbnormality puberty of neutrophilswith joint of the thumb Absent thumb the 3rd finger phalanx of the 2nd finger T-cell lymphoma/leukemia Prominent nose the 2nd toe Sclerosis of proximal toe phalanxPatchy sclerosis of the proximal Ureteral dysgenesis Esophageal varix Reduced xanthine dehydrogenase Cerebral white matter hypoplasia middle phalanx of the 4th finger Aplasia/Hypoplasia of the Aplasia/HypoplasiaproximalAplasia/Hypoplasia of the middle of the phalanges DuplicationThimble-shaped of phalanx of 2nd middle Chess-pawnfinger phalanges distal phalanges Globe retraction and deviation on Abnormality of the intrahepatic bile phalanx Patchy sclerosis of hallux phalanx phalanx of the 3rd toe Esophageal diverticulum Perilobar nephroblastomatosishypodensities AgenesisHerpes simplexof the anterior encephalitis commissure Irregular epiphysistumor of the middle Aplasia/Hypoplasia of the 2nd finger Duplication of the middle phalanx of Spontaneous hemolytic crises Gonadotropin excess Aplasia/HypoplasiaSclerosis of theof the middle 4thSclerosis toephalanx of of the proximal phalanx of Sclerosis of the proximalphalanx phalanx of the of 4th toe Aphalangy of handsactivity and feet Nearly complete absence of phalanx of the 5th finger phalanx of the 2ndof the finger 4th finger ExpandedBullet-shaped phalanges distal withphalanx widened of the of hand abduction Fava bean-induced hemolytic Broad nasal tip Bulbous nose Aplasia of the phalanges of the 2ndPatchy sclerosis of the distal Symphalangism of the proximal Xanthinuria phalanx of the 5th finger Flexion contracture of the 2nd finger Aplasia of the middle phalanx of the Aplasia/HypoplasiaBroad thumb ofDuplication the middle of the proximal phalanx duct Thromboembolic stroke Aplasia of the middle phalanx of the the 3rd toe the 5th toePatchy Patchy sclerosis sclerosis of the of middle the proximal HypoplasticCone-shaped anterior commissure epiphysis of the distal Joint contracture ofAbnormality the 4th finger of saccadic eyeUlnarMinimal deviation subcutaneous of the hand fat or of Aplasia/Hypoplasia of the proximal medullary4th fingercavities Triangular shaped distal handphalanx of Rhomboid or triangular shaped 5th anemia Chronic hemolytic anemia Cleft ala nasi toe the 4th toe Enlarged epiphysis of the middle metabolically active adipose tissue Specific antibody deficiency Aplasia of the distal phalangesphalanx of of the 4th finger Bullet-shaped distal phalanx ofTriangular the shapedDuplication phalanges of thumb of thephalanx Thyroid hypoplasia phalanx of the 2nd toe phalanx of the 5th toe Proximal/middleAbnormality symphalangism of sodium homeostasis of phalanx of the 3rd toe with the 3rd Widened distal phalangesSmall epiphysis of the middle movements fingers of the hand hand Aplasia/HypoplasiaBroadAbnormality of middle the middle phalanx of the distalof the phalanx3rd ofof the 2nd finger the 3rd finger finger distal phalanx ProboscisLong nose 2nd toe Sclerosis of thephalanx distal phalanx of the Sclerosis5th of thetoe of hallux phalanx Clubbing of toes Symphalangism affecting the middle phalanxTriangular of the epiphysis 3rd fingerphalanx of the of middle the thumb Pseudoepiphysis of the(subcutaneous, distal intraabdominal, phalanx of the 4ththe finger hand Abnormality of the middle phalanx 5th finger Impaired5th finger ocular abduction Episodic hemolytic anemiaNonspherocytic hemolytic anemia Abnormality of the enteric ganglia Sclerosis of the middle phalanx of Aplasia/Hypoplasia of the hallux Proximal/middle5th toe symphalangism of metatarsal phalanxSmall of epiphysis the 3rd finger of theSmall distal epiphyses phalanx of the distal Irregular epiphysis of the middle Coxa vara phalangesAplasia/Hypoplasia of the hand of fingerthethe proximal5th finger Absent dorsal skin creases over Impaired vibratory sensation Aplasia/Hypoplasia of the nasal bone Sclerosis of 2nd toe phalanx Symphalangism affecting the phalanx of the 5th toe Neoplasm of the stomach phalanx of the 5th finger phalanx of the 5th finger intrathoracic) Aplasia/Hypoplasia of the distal of the 5th finger Broad middle phalanx of the 2nd Abnormality of the coronary sinus Thyroid carcinoma Long palpebral fissure Increased red cell hemolysisCoombs-positive by hemolytic anemia Abnormality of lens shape 4th toe Patchy sclerosis of proximal toe 3rd toe Anoperineal fistulaExcessive purine production MalignantCerebral gastrointestinal white matter tractagenesis of the 3rd fingerphalanges of the hand phalanx of the 2nd finger Short finger phalanx of the 3rdBullet-shaped finger Bullet-shaped middle phalanx proximal ofBroad phalanxthe middle of phalanx of the 4th Congenital palmoplantar affected joints Intrahepatic biliary atresia Flat nasal alae Abnormality of the nasal alae Positive Romberg sign the 4th toe Patchy sclerosis of 4th toe phalanx proximal phalanx of the 4th toe Recurrent protozoan infections Small epiphysisTriangular of epiphysis the distal ofphalanx the middle FragmentationIrregular epiphysis of the Narrowepiphysis of the femoral distal of neck Deviation of fingerAbnormalityAplasia/Hypoplasia of the thumbphalanx of the 3rd of fingerthe thumb Broad middle phalanxCurved of finger distal phalanx of fingerthe 5th Nonopposable triphalangeal thumb shear stress phalanx Polysyndactyly of hallux tumors Enlarged epiphysis of the distal AbnormalityJoint of the contracture adrenal glands of the 3rd finger Aplasia/HypoplasiaPolydactyly of the affecting 4th finger the 4th fingerShort proximalAplasia/Hypoplasia phalanx of thumb of the phalanges 3rd fingerthe 3rd finger Bullet-shapedfinger middle phalanx of the Dysplastic distal thumbkeratodermia phalanges Restrictive external ophthalmoplegia Recurrent thromboembolism Patchy sclerosis of 2nd toe phalanx Patchy sclerosis of the distal Esophageal web Clear cell renal cell carcinoma Enlarged epiphysis of the middle ofphalanx the 4thIrregular fingerof the epiphysis3rd finger of thethe middle distal phalanx of the thumb3rd finger finger Sensory ataxia Sclerosis of the distalSclerosis phalanx of of 3rd the toe phalanx Aplasia of the phalanges of the toes Sclerosis of the 1st metatarsal Symphalangism affecting the Proximal symphalangism (feet) phalanx of the 3rdSmall finger epiphysis of the middleFragmentation of the epiphysis of Aplasia/Hypoplasia of the middle3rd finger Broad distal phalanx5th fingerof theTriphalangeal 4th finger thumb with a central hole Thyroid agenesis Cyst of the ductus choledochus Exercise-induced hemolysis Acute disseminated intravascular Postprandial hyperglycemia Symphalangism affecting the phalanxEnlarged of the epiphysis 5th finger of the distal Triangular shaped distal phalangesHeavy supraorbital ridgesVerticalSlender supranuclear distal phalanx gaze palsy of finger Short palpebral fissure Compensated hemolytic anemia Impaired distal proprioception Abnormal maternal serum screening 3rd toe phalanx of the hallux Abnormality ofproximal the phalanx of the 5th toe MesoaxialEnlarged polydactyly epiphysis of the proximal phalanx of the 5thphalanx fingerthe of middlethe 3rd phalanxfinger of Fragmentationthe 5th finger of the epiphysisThyroid-stimulating of hormoneHypoplastic vertebral bodies phalanx of the 3rd finger Bullet-shaped distal phalanges of Triangular shaped distal phalanxAbnormal of finger flexion creases High insertion of columella coagulation Patchy sclerosis of the distalPatchy sclerosis of distal toe phalanx proximal phalanx of the 3rd toe Polydactyly Cone-shaped epiphysis of thephalanx distal of theIrregular 4th finger epiphysis of the distal Flexion contracture of Abnormalitythumb of the 2nd finger Bullet-shaped Broadphalangesof the distalhand of phalanx the 4th of finger Thyroid papillary adenoma Abnormal nasal morphology ClinodactylyPostaxial polydactyly phalanx of the 5th finger EnlargedFragmentation thumb epiphysis of Fragmentationthe epiphysis of of the epiphysis theof middle phalanx of the 2ndreceptor finger (TSHR)Abnormality defect of the 5th finger Aplasia of the proximal phalanges of the hand the thumb Tapering pointed ends of distal Thyroid macrofollicular adenoma Folate-unresponsive megaloblastic GrowthAbnormality hormone of the excess preputium phalanx of the 5th toe Sclerosis of 4th toe phalanx phalanx Pseudoepiphysisof the 5th finger of the middle Small epiphysis ofPseudoepiphysis the distalTriangular phalanx of epiphysis the distalSmall of epiphysis the distal of the distal phalanx BroadBroad distal phalanges phalanxTriangular of of the the 4th 3rdshaped finger finger distal phalanx of Broad distal phalanx of the 2nd Extrahepatic biliary duct atresia Macrocytic hemolytic disease Thiamine-responsive megaloblastic Broad columella Chronic disseminated intravascular Sclerosis of the middleSclerosis phalanx of of 5th toe phalanx Symphalangism of the proximal Enlarged epiphysis of the middle phalanx of the 3rd finger PseudoepiphysisTriangular of the distalepiphysisIrregular Hypoplastic of epiphysisthe middle biceps of the distal Aplasia/Hypoplasiathe hand Aplasia/Hypoplasia of the proximal of the phalanges finger Triangular shaped middle phalanxSlender of middle phalanx of finger Synostosis of the proximal phalanx phalanx of the 4th finger the middle phalanxthe of distalthe 4th phalanx fingerphalanx of the of the5th 4thfinger finger of Interphalangeal the thumb joint contracture of Patchy Broadsclerosis phalanges of the distal Curvedof the 3rd proximal finger phalanx of the 5th the 2nd finger finger finger phalanges anemia Thin anteverted nares T-cell lymphoma the Patchy5th toe sclerosis of the middle phalanx of the 2nd toe with the 2nd phalanx of the 4th finger Enlargedof theepiphyses 5thphalanx finger of the of middlethe 4th phalanxfinger of the phalanxthumb of thephalanx 4th finger of the 5th finger Short distal phalanx of thephalanges thumb of the hand Abnormality of the phalangesAbnormality of the of the distal phalanx of Curved middleBullet-shaped phalanxthe 5th of thefinger distal 5th phalanx of the Thyroid microfollicular adenoma anemia Thyroid-stimulating hormone excess coagulation of the hallux with the 1st metatarsal Ectopic accesory toe-like appendage Rectal abscessEnlarged epiphyses of the 5th finger Enlarged epiphysis of the proximal finger Broad proximalphalanx phalanxof of the the of 2nd 5ththeAbnormality finger3rd of the distalfinger phalanx of Abnormal protein glycosylation Prominent nasal septum Sclerosis of the distal phalanx of the phalanx of the 4th toe Postaxial polysyndactyly of footmetatarsal Enlarged epiphysis of the distal phalanges of theIrregular hand Abnormality epiphyses of the distalepiphysis of the Broad femoral neck Bullet-shapedthe thumb phalangesCurved middle ofOsteolytic the phalanx 3rd defects of the 4th offinger the distal 2nd finger Thyroid dysgenesis Patchy sclerosis of the distal Symphalangism of the proximal Enlarged epiphyses of the 4thSmall fingerCone-shaped epiphysis of the epiphysis middleFragmentation of the of the epiphyses of Aplasia/Hypoplasia of the thumb finger 5th finger Thyroid follicular adenoma Microangiopathic hemolytic anemia Anteverted nares Hallux varus Patchy sclerosis of the proximal Patchy sclerosis of the 1st AbnormalitySynostosis of involving the esophagus bones of the phalanx of the 5th finger Pseudoepiphysisphalanx of the of middle the thumb Aplasia/Hypoplasia of the phalanges Patchy sclerosisthe of3rd the finger middle Broad proximal phalanxTriangularfinger of the shaped thumbfinger middlephalanx phalanx of the 5thof fingerRadial deviation of thumb terminal Phacodonesis 5th toe Sclerosis of the proximal phalanx of Postaxial foot polydactyly Recurrent opportunistic infections phalanxmiddle Smallof phalanx the epiphyses4th offinger the 5th of thefinger middle the 5th finger phalangesdistal phalanxof the hand of the 5th finger Abnormality of the 3rd finger Aplasia of the distal phalanx ofDuplication the of phalanx of hand Bullet-shaped middle phalanges of Patchy palmoplantar keratoderma Folate-responsive megaloblastic Adrenocorticotropic hormone excessDeviated nasal septum Thromboembolism Clinodactylyphalanx of ofthe the 3rd 3rd toe toe metatarsal phalanx of the 4th toe with the 4th toes Small thumbIrregular epiphysisphalanx epiphysisAbnormality of ofthe the 5th distal fingerof the epiphysisAbsent of the epiphysis of theContracture distal of the proximal phalanx of the 5th finger Osteolytic defectsthe of 4th the finger Bullet-shapedmiddle phalanges of the 5th phalanx Low insertion of columella phalanx of the 3rd toethe 3rdAbnormality toe of glycolipid metabolism Triangular shaped 1st metatarsalRectal prolapse phalangesSmall of the epiphysis hand of the proximal Irregular thumb epiphysis Abnormality of the 4th finger of the hand Broad proximal phalanx of the 2nd the hand Hurthle cell thyroid adenoma Small palpebral fissure Impaired distal tactile sensation Cutaneous syndactyly metatarsal DeepHamartomatous white matter hypodensities stomach polyps Small epiphyses of the 3rd finger phalanx of themiddle 4th Abnormalityfinger phalanx of ofthe the 5th epiphysis fingerphalanxAbnormality ofof thethe of 2nd theinterphalangeal finger epiphysis of the joint of the 2nd Abnormalitythumb of the middleCurved phalanx distal phalanx of the 3rd Bullet-shapedfinger middle phalanx of the anemia Short columella Fibular deviation of theProximal 3rd toe placement of hallux Sclerosis of toe phalanx Midnasal stenosis Neoplasm of the small intestine Pseudoepiphysis of the proximal Abnormality of the epiphysis of the Contracture of the proximal Chilblain lesions finger NeutrophilliaphalanxTriangular of the shaped 5th finger middle phalanxTriangular of shaped proximal phalanx Increased scrotal rugation Prolactin excess Small toe Enlarged epiphysis of the distalphalanx of the thumb distal phalanxTriangular of the 4th epiphysisdistal finger phalanx of the ofdistal the thumbfinger Distal/middleof the 3rd symphalangism fingerSinus venosus of atrial 5thfinger septal defect Defect2nd in finger the atrial septum Recurrent external ophthalmoplegia Reduced kininogen activity Hemolytic anemia Impaired proprioception Broad phalanx of the toes Enlarged epiphysesphalanx BracketofIrregular theof the distal epiphysis thumb epiphysisBracket of epiphysisof the the middle middledistal of the phalanx distal of the 2nd finger Recurrent cutaneous abscess Sclerosis of the middle BroadphalanxBroad proximal ofphalanges phalanx of the of hand the 4th the 3rd finger Abnormal nerve conduction velocity Progressive external Short nasal septum Disseminated intravascular Patchy sclerosis of toe phalanx Barrett esophagus Cone-shapedRecurrent infections epiphysesIrregular in infancy ofepiphyses the 5thandphalanx of the of3rd the finger 2nd fingerEnlarged epiphysis of the middle phalanx of the thumbinterphalangeal joint of the 5th finger HypersegmentationBroad of proximal proximal phalanx of the 5th Abnormality of the middle phalanges of the 5th fingerBifid thumb distal phalanx Thick nasal septum Gastrointestinal stroma tumor Pseudoepiphysis of the proximal Cone-shapedphalanx epiphysis of phalanxthe of the4th fingerofFragmentation theAbnormality 4th finger of of the the epiphysis epiphyses of ofthe formationDecreased adiposeAbsence tissue around of subcutaneous Short thumb fat over finger Abnormality of the middle Bullet-shapedphalanx middle phalanx of the Drumstick terminal phalanges ophthalmoplegia HypoglycorrhachiaDeviation of the 5th toe earlyfinger childhood phalangesphalanx of theof the handphalanx 2nd finger of the 2nd finger Proportionate shortening of allphalanx digits of secondthe 5th finger finger finger AbnormalityfingerAbnormality of the ofproximal the middle phalanx phalanx Abnormality of theof thedistal hand phalanx of Abnormality of the columella coagulation Patchy sclerosis of the distal Rectal fistula Complete duplication of the 1st Cone-shaped epiphysisphalanx of of the the 5th thumb finger Pseudoepiphyses of the middle Thumbs hypoplasticneck with bulbous of the 2ndTriangular finger shaped phalanges4th finger of the Rhomboid or triangular shaped 5th Biliary atresia Low hanging columella Congenital macroorchidism Narrow nasal septum Tibial deviation of the 5th toe Osteolytic defects of the 1st middle phalanx of the 2nd finger themiddle distal phalanx phalanges of theof the 3rd hand finger Contracture of the proximal entire body except buttocks, hips,Duplication of the 1st metacarpal of theof 5th the finger 4th finger Triangular shaped distal phalanx of Nonprogressive restrictive external Pyrimidine-responsive Decreased scrotal rugation Hallux valgus Toe clinodactyly phalanxSyndactyly of the 4th toe Symphalangism of the proximalSynostosis involving the 1st Morphological Renalabnormality cell carcinoma of the Cone-shaped epiphyses of the 4thPseudoepiphysis Pseudoepiphyses of the of middle the 5th finger Abnormality of the epiphysis of the Progressive loss of facial adiposetips Neoplasm of the adrenal gland TriangularTriangular shaped shaped phalanges phalangesfinger4th ofBullet-shaped fingerofthe the proximal phalanxProminent of supraorbital arches in finger proximal phalanx Absent nasal cartilage Clinodactyly of the 5th toe Decreased numbers of nephrons metatarsal metatarsal BracketBracket epiphysisphalanges epiphysis of the of of themiddle the hand distal and thighs Patchy sclerosis of the distal Triangular shapedtheBullet-shaped middle 4th finger phalanx distal of phalanx of the ophthalmoplegia Abnormality of the ductus megaloblastic anemia Supernumerary naris Abnormality of the choanaephalanx of the 5th toe with the 5th metatarsal gastrointestinal tract finger phalanx of the 2nd finger Small epiphysis of theIrregular distalmiddle phalanx epiphyses phalanx of oftheIrregular the middleFragmentation 4thFragmentation finger epiphysis Decreased of of the the of epiphysis themiddle adipose epiphysisinterphalangeal oftissue of joint of the 3rd Curved phalanges2nd of finger the 5th finger Longadult middle phalanx of finger Macroorchidism, postpubertal Single naris Tibial deviation of the 3rd toe Abnormality of the 3rd toe Abnormality of the 5th toe Failure to thrive secondary to Lipodystrophyphalanxphalanx of the of 2nd the finger3rd finger tissue phalanx of the 2nd finger 3rd finger thethe 2nd thumbCurved finger distalCurved phalanx middle of thephalanx 2nd of theTapered 2nd distal phalanges of finger Microprolactinoma choledochus Megaloblastic anemia Distal sensory impairment Deviation Decreasedof the 3rd toe CSF homovanillic acid Arterial thrombosis Polydactyly affecting the 3rd toe metatarsal FootDecreased polydactyly circulating renin level Bracket epiphysisof of the the 2nd middle finger phalanges of the handthe phalanx proximalthe distal of thephalanx phalanx 4th finger of of the the thumb 2nd finger finger Euthyroid hyperthyroxinemia Broad finger Bullet-shaped proximal phalanx of Abnormalitythumb of ocular abduction Thyroid atypical adenoma Polydactyly affecting the 2nd toe Esophageal carcinoma recurrent infectionsCone-shaped epiphysis of the Small epiphyses of the 5th finger Ivory epiphysis of the middle Abnormality of the phalanges of theAbnormality of the distal phalanx of finger Thyroid adenoma B-cell lymphoma (HVA) Celiac disease Zollinger-Ellison syndrome Enlarged epiphysesCone-shaped of the 2nd epiphysis fingerPseudoepiphysis of thephalanx distal of of the the 5th thumb finger Camptodactyly of 2nd-5th fingers Trident hand Symphalangism of middle phalanx Bullet-shaped phalanges of the handfinger Clinodactyly of the 2nd toe middle phalanx of the 3rd finger Triangular epiphysis of the distal Abnormality of theFragmentation epiphysis of theof the epiphysesIrregular of epiphysis phalanx of of the the proximal 5th finger Aplasia/Hypoplasia of the proximalAbnormality of4th the finger phalangesAbnormalitythe 5th of finger the of the distalOsteolyticthe phalanx 2nd defects finger of of the phalanges Rounded middle phalanx of finger Abnormality of the lens Deviation of the hallux Overlapping toe Aplasia/Hypoplasia of toe Intralobar nephroblastomatosis PseudoepiphysesCone-shapedphalanx ofBracket the of 4th the epiphyses epiphysis finger 2nd finger of the Tricepsproximal hypoplasia Fragmentation of the epiphysis of Small finger of 5th finger Triangular shaped thumb phalanx Burkitt lymphoma Absent nares Enlarged naris Extra-axial cerebrospinal fluid Peripheral thrombosis Clubbing phalanx of the 5th fingerIrregular Triangular epiphysesdistal epiphyses of phalanx the 5th of finger ofthe the distalmiddle 3rd finger phalanges of the handphalanx of the thumb Patchy sclerosisPatchy of 5th fingersclerosis of phalanxthe middle of theSclerosis thumb of the distal3rd phalanx finger of the Irregularthe 4th finger phalanges of the 5th finger Diffuse palmoplantar keratoderma Rieger anomaly Bifid scrotum Hyperpituitarism Hammertoe Hyperglycemia Preaxial foot polydactyly Cone-shaped epiphysis of the distal Triangular epiphysesmiddle of phalangesthephalanx 5th finger of of the the hand 4thAbnormality finger ofStippling theFragmentation epiphyses of the epiphysis ofPseudoepiphyses the of the of epiphyses the of ofthe distalthe distal phalanx of the thumb Curved phalanges of the 3rd finger Bullet-shaped phalanges of the 2nd Honeycomb palmoplantar Abnormal size of the palpebral Abnormality of the nasal cartilage accumulation Abnormality of the 2nd toe Contracture of the distal Mesoaxial foot polydactyly Abnormality of xanthine metabolism Cone-shaped epiphysesFragmentation of the of the epiphyses of phalanges of the handAbnormality of the epiphyses of the phalanx phalanx of the 3rd finger 5th Broadfinger phalanges of the 2nd finger Bullet-shaped thumb phalanx Abnormal platelet count Nonepidermolytic palmoplantar Impaired tactile sensation phalanx of the 4th finger Triangular5th finger epiphyses theof the 3rdphalanges middle finger of the hand Aplasia/Hypoplasia of fingers AbnormalityDistal/middle of symphalangismthe proximal phalanx of 3rd keratoderma fissures Depressed nasal ridge Varicocele Low CSF 5-methyltetrahydrofolate Benign gastrointestinal tract tumors Enlarged epiphyses of the 3rd fingerthe 4th finger middle phalanx of the 5th fingerdistal Abnormality phalanx of finger of the femoralIvory neck epiphysisContracture of the distal of the phalanx proximal Abnormality of the proximal phalanx Triangular shaped phalanges of the finger keratoderma Abnormal scrotal rugation Fibular deviation of toes Deviation of toes interphalangeal joint of the 2nd toe Enlarged epiphysis of the proximaldistalSmall phalanges epiphyses of Triangularofthe the hand 4th fingerepiphysis of the distal phalanges of Fragmentationthe hand of the epiphyses of Bullet-shapedof the 4th finger proximal phalanxOsteolytic of defects of the middle Curved distal phalanges of the hand Pituitary thyrotropic cell adenoma Macroprolactinoma Narrow naris Increased CSF protein Abnormal thrombosis PolydactylyBulbous affectingtips of toes the 4th toe Aplasia of the upper vagina Small intestine AbsentIrregular epiphysisTriangular epiphyses of theepiphyses of middle the 2nd of thefinger 3rd finger Absent epiphysis ofof theIvorythe 5thdistal epiphysis finger of the middle Splayed fingers Broad proximalAbnormality phalanges of the proximal3rd of thefingerfinger phalanx Triangular shaped proximalAbnormalityOsteolytic phalanx of thumb defects phalanx of the distalCurvedhand middle phalanges of the Refractory macrocytic anemia Ectopic Absent scrotumPrimary Abnormality of the nasal septum phalanx of the 4th finger Small epiphysis of the middle AbnormalityAbnormality of the epiphyses of the ofepiphyses the ofthe the 2nd finger interphalangeal joint of the 4th finger Sclerosis of 5th fingerPatchy phalanx sclerosis of 2nd finger Patchy sclerosisBullet-shaped of the distal proximal phalanx phalanges of the 3rd finger Right ventricular noncompaction Duplication of the 1st metatarsal Protrusio acetabuli Aplasia/hypoplasia of the 1st Irregular epiphysis of theDistal proximalphalanx symphalangism of the 2nd finger Abnormality of thumb epiphysisStippling of the epiphysisphalanxAbsent of the ofepiphysis the thumbphalanx of the distal of the 2nd finger handof the 2nd fingerAbnormalitythe 4th finger of the phalangesof the 4th of thefinger phalanx of the 3rd finger Macroorchidism lymphoma Asymmetry of the nares Tibial deviation of toes Aplasia of the lower vagina Abnormality of digit phalanx of thephalanx 2nd finger of the 4th finger 4th finger 3rdAbnormality finger of the epiphyses of the Absent proximal phalanx of thumb Abnormalphalanx Abnormalityof neutrophil the thumb cellofof thethe Osteolyticnumber handproximal defects phalanx of the middleCurved phalanges of the 4thhand finger Pituitary acidophilic stem cell Cholangitis Anuria Tibial deviation of the 2nd toe metatarsal Irregular epiphysisSmall of epiphysisthe proximal of the proximal Bracket epiphyses of the 4th fingerAbsent epiphysis of the middle phalanx of the 4th finger Bilateral camptodactyly Sclerosis of thephalanx distal phalanx of the 2nd finger CurvedTriangular proximal shaped phalanx proximal of the 4thOsteolytic defects of the distal Pituitary prolactin cell adenoma cardiomyopathy Increased CSF interferon alpha Clinodactyly of the 4thBroad toe 5th toe Abnormality of the nephron phalanx of the 2nd finger Triangular epiphysis middleof theBracket middle phalanges epiphysis Abnormalityof middlethe of hand the phalanx middleof the ofepiphysis the 4th fingerof the IncreasedSwan serumneck-like free deformities of the of the thumbphalanx of the 4th finger Pituitary null cell adenoma External ophthalmoplegia Wide nasal ridge Ectopic scrotum Clinodactyly of hallux Rectoperineal fistula Increased purine levels Cone-shaped epiphysesphalanx of of the the 4th finger Broad phalanx Absent epiphysis of the distal 2nd finger phalangesfinger of the handLong distal phalanx of finger Biliary tract obstruction Macrocytic dyserythropoietic anemia Wide penis Shallow acetabular fossae Absent first metatarsalphalanx of the 3rd finger phalanx ofAbsent the 2nd epiphysis finger phalanx of thephalanx middleof distalthe of 3rd the phalanx finger 2nd finger of the 2nd finger triiodothyroninePatchy (fT3)fingers sclerosis of the proximal Sclerosis of distal finger phalanx Curved proximal phalanges of the phalanx of the 4th finger Convex nasal ridge BilateralUnilateral cryptorchidismImpaired cryptorchidism temperature sensation Vaginal pyocele Small scrotum Long hallux Aplasia/Hypoplasia of the cerebral Lumbar hemivertebrae phalanx of the 5th finger Abnormality of the epiphysis of the Sclerosis of theDistal/middle distal phalanx symphalangism of theBullet-shaped of 4th proximal phalanx of Curved middle phalanx of the 3rd Posterior pituitary agenesis SplayedHyponatriuria toes Ureteral triplication Steep acetabular roof phalangesSmall of epiphyses the handSmall of epiphysis the phalanges of theCone-shaped ofproximal epiphysis Cone-shapedof the epiphysis of the distal phalanx of the 5th fingerAbsent epiphysis of the distal phalanx of the 2nd finger hand CurvedTriangular distal phalanxTriangular shaped of Horizontal theshapedmiddle thumb phalangesproximal supranuclear phalanx gaze palsy Macrodactyly of toe white matter Cone-shaped epiphyses of theIrregular 2nd Bracket epiphyses epiphyses of the phalangesof the distal Pseudoepiphysis ofproximal Ivorythe middle epiphysis phalanx of of theAbsent the distal thumb epiphyses phalanx of the distal Sclerosis of the middle phalanxPatchy sclerosisof of the proximal Curvedthumb proximal fingerphalanx of the 2ndthe 2nd finger finger Pituitary adenoma Eclampsia Decreased circulating aldosterone thephalanx hand of the 5thproximal finger phalanxRecurrent of theFragmentation infections3rd fingerphalanxBracket of the of epiphyses epiphysisthe 3rd finger ofof the 3rd finger Patchy sclerosis of the proximal Partial absence of thumbDistal/middle symphalangism of 2nd Curved phalanges ofof the the 2nd hand finger Biliary cirrhosis Biventricular noncompaction Abnormality of the nasal dorsum Abnormality of the nasal bone Deviation of the 2nd toe Abnormality of toe Decreased urinary potassium Small epiphysisCone-shaped of the proximal epiphyses of the 3rd of the handAbnormality Bracket of the epiphysesepiphysisTriangular of epiphysisphalanx theStippling distal of of the theof Ivory3rdthe proximalphalanx fingerepiphysis epiphysis of theof of the 2nd3rdthe fingermiddlefinger IntraventricularWeakness arachnoid of cystlong finger extensor finger Curved phalanges of the hand of the thumb Left ventricular noncompactionPretesticular azoospermia Concave nasal ridge Oliguria AbnormalityDissociated of the external sensory nose loss Testicular atrophyTesticular fibrosis Maternal hypertension Fibular deviation of the 5th toe Acetabular dysplasia Enlarged epiphyses offinger the Pseudoepiphysis Pseudoepiphysesthe proximal ofTriangular thephalanges proximalof phalanx the epiphysis phalanges of of the the of hand 3rd the proximal Ivory epiphyses of phalangesthe 5th finger of the hand Abnormality of fingerphalanxthe 3rd fingerof the 5th phalanxfingerPatchy sclerosisof the 3rd of finger theSymphalangism proximal of the 5th fingerfinger Osteolytic defects of the proximal cardiomyopathy Fibular deviation of the 4th toe Curved 1st metatarsal level phalanx of the 4th fingerfinger Abnormality of the epiphysis of the 2ndphalanx finger of thephalanxBracket 5th finger ofepiphyses the thumb ofphalanx the middle of the 4th finger muscles Triangular shaped Symphalangismproximal phalanx of middle phalanx Palmoplantar keratoderma Abnormality of circulatingDecreased enzyme distal sensory nerve cardiomyopathy AccessoryVaginal scrotum hematocele Scrotal pain Abnormality of the 4th toe Macrodactyly Cone-shapedphalanges epiphysis of of the the hand phalanx of the 2nd fingerphalanxfinger of the 5th fingerBracket epiphysis ofmiddle the distal phalanx of the 3rd finger Ivory epiphysis of the proximal phalanxSymphalangism of the 4th finger of the 3rd finger Osteolyticphalanx defects of theof the 5th middle finger Posterior pituitary hypoplasia Cryptorchidism Tibial deviation of the 4th toe Hypermobility of toe joints Nephroblastomatosis Abnormality of the anterior of the hand Sclerosis of PatchymiddleSclerosis sclerosisfinger of phalanx the of proximaldistal phalanx phalanx of of of the 2nd finger of finger Thyroid C cell hyperplasiaThyroidlevel follicular hyperplasiaaction potential Biliary hyperplasia Hyperchromic macrocytic anemia Narrow nasal ridge Shawl scrotum Deviation of the 4th toe Slender toe Neoplasm of the ureter Cone-shaped epiphyses of Hamartomatous polyposisproximal phalanx of the 2nd finger proximal phalanx of the 4th finger Triangularphalanx epiphysesofBracket the 2ndphalanges epiphysis offinger the 4th Stipplingof finger the handdistalHypoplasia of the epiphysis of the ofupper the armphalanx of the thumb SymphalangismPatchy ofsclerosis middle ofphalanx the distal phalanges of the hand Orchitis TesticularCorpus dysgenesis cavernosum sclerosis Broad 2nd toe Contractures of the Perineal fistula Clubbing of fingerscommissure Susceptibility to herpesvirus Absent epiphyses of the 5th finger Abnormality of thyroid physiology Aplasia of the phalanges of the hand fingerthe thumb Abnormality of color vision OsteolyticCurved defects distal of the phalanx distal of the 4th Uninodular goiter Non-obstructive azoospermia Renal magnesiumSandal wasting gap Abnormal circulating reninHypoplastic acetabulaephalanges 2 to 5 Cone-shaped epiphysisBracket of epiphyses the of the 2nd finger phalanx of the distalthumb phalanx of the 5th fingerIvory epiphysis of the middle Distal symphalangism (hands) Abnormalityofphalanx 3rd finger of ofthe phalanx 4th finger of finger Osteolytic defects of the distal Hydrocele testis Abnormality of the nares Abnormality of the hallux Abnormality of the midnasalmetatarsophalangeal cavity joint of the Cone-shaped epiphysisIrregular of the epiphysis of the proximal Abnormality of the epiphysis of the Stippling of themusculature epiphysis of the Neoplasm of the phalanges of the handfinger ThyrotoxicosisPituitaryThrombocytosis growthwithPituitary toxic hormone cell adenoma Decreased output Non-Hodgkin lymphoma Preeclampsia Maternal first trimester fever Bullet-shaped 1st metatarsal Hypointensity of cerebral white proximal phalanxSmall epiphysesof theTriangular 4th fingerof the epiphysis 2nd finger of the distal Flexion contracturephalanx of of the finger 3rd fingerThyroid defect in oxidation and Short phalanx of the thumb Patchy sclerosis of the middle Vaginal lymphocele Testicular torsion Fibular deviation of the 2nd toe Renal sodium wasting hallux Thoracicproximal hemivertebrae Pseudoepiphysisphalanx of the 5th of finger thephalanx proximal of theBracket 3rd finger epiphyses of the proximal Fragmentation of the epiphysesAbsent of epiphysisStippling of the ofproximal the epiphysis of the Aplasia/Hypoplasia of the phalanges OsteolyticPatchy sclerosis defectsSymphalangism ofof thethe middleproximal of middle phalanx phalanx of the 2nd finger multinodular adenomagoitre Normochromic microcytic anemia Macrocytic anemia Small epiphysis of the middle Retractile testis Abnormality of the first metatarsal Juvenile gastrointestinalEsophageal polyposis neoplasmmatter on MRI Bracket epiphysis of the proximal phalanxproximal of phalanx the 3rd offinger the 5thAbsent finger epiphyses of the middledistal phalanx of the thumb organificationReduced subcutaneous of iodide adipose Abnormality of the proximalphalanx of theSymphalangism 2nd finger of middle Curvedphalanx proximal phalanx of the Supranuclear gaze palsy Large beaked nose Contracture of the tarsometatarsal phalanx of the 4th fingerMacrodactyly ofphalanges finger of the hand the phalangesAbsent of the epiphyses hand ofphalanx the 4th of distalfinger the thumbphalanx of the 4th finger of the thumb of 2nd finger Polyuria phalanx of the 3rd toe Abnormality of the cerebrospinal Broad toe Streak ovarybone Hemivertebraephalanx ofTriangularPseudoepiphyses the 3rdFragmentation finger epiphyses of oftheof thethe proximal epiphysis of PseudoepiphysesFragmentationphalanges of the ofof 2nd thetheAplasia/Hypoplasia epiphysisfingerhand of of the bicepsIvory epiphyses of the distal Sclerosistissue of the proximalPatchy phalanx sclerosis of Hypersegmentationof 4thPatchy finger sclerosis phalanges of of proximal Patchymiddle of the phalanx sclerosis hand of the distalphalanxphalanx ofof thethe of 4th4th 4th fingerfinger finger thumb Obstructive azoospermia Fragmentation of the epiphysis of Hypernatriuria Long toe Flexionjoint of contracturethe halluxAplasia of of thethe 2ndvagina toe Pituitary spindle cell oncocytoma Camptodactyly of finger Prominent supraorbital ridges Concentric hypertrophic Gallbladder dyskinesia Small epiphysis of the distal phalanx Prominent scrotal raphe Dysplastic testes Vanishing testis Metatarsal synostosis phalangesphalangesthe proximal of the of the handphalanx hand of the 5th the distal phalanxAbsent ofAbsent the epiphysis4th epiphyses finger of the ofIvory middlethe epiphysis thumb phalanges Ivoryof the epiphyses distal of thephalanxIvory hand of epiphysisthe 2ndSclerosis finger of the of distal the proximal phalanx phalanxthe 2nd of finger Patchy sclerosis of proximalphalanx ofphalanx thirdof fingerfinger phalanx of the 3rd finger Curved thumb phalanx the proximal phalanx of the 5th toe Cutaneous finger syndactylyAnteriorfluid pituitary hypoplasia Broad 3rd toe Abnormal circulating aldosterone Thenar musclePatchy weaknessphalanx sclerosis of 3rd finger Symphalangism of the 4th finger Abnormal biliary tract morphology Bracket epiphysis of theof Absentthedistal 3rd epiphysistoe of the distal Vaginal hydrocele agenesis Abnormality of monovalent Acetabular spurs finger Abnormality of the epiphysisAbsent ofepiphyses the phalanxof the 3rd of finger theFragmentation 3rd finger ofof thumb the 3rd epiphysis finger of the thumbthe 5thThyroid finger hormone receptor defect of finger Patchy sclerosis of thumb phalanx cardiomyopathyAsymmetric septal hypertrophy Bracket epiphysis of the middle Bracket epiphysis of the proximalTesticular microlithiasis Contracture of the IrregularBroad acetabular first metatarsal roof Irregular epiphysesTriangular ofepiphysis the AmyoplasiaproximalIrregular of the epiphysis proximal of the proximal Triangular epiphyses of the thumb Sclerosis of 3rd fingerphalanx phalanx Osteolytic defects of the proximal Elevated maternal serum Absent thumbnail phalanx of the 3rd toe Hyoplasia of the Leydig cells Medially deviated second toe inorganic cation homeostasis Enlarged epiphyses of the proximal proximalStippling phalanx of the of theepiphyses 2nd finger of the 4th Sclerosis ofSclerosis 2nd finger of phalanxthe distal phalanx of the Osteolytic defect of the distal ProlongedProlonged partial thromboplastin whole-blood clotting time phalanx of the 3rd toe phalanx of the 3rd toe Scrotal hyperpigmentation Primary testicular failure Broad 4th toe Widely spaced toes metatarsophalangeal joint of the 2nd phalangesphalanx of the handof the 3rdphalanx finger of the 5th fingerPseudoepiphysis Aplasia/Hypoplasia of theof the distal triceps Ivory epiphysis of the distal phalanx Sclerosis of the middle phalanx of Patchy sclerosis ofphalanxCurved the proximal fingersof the 3rd finger Osteolytic defect of the proximal Abnormality of the kinin-kallikrein Almond-shaped palpebral fissure phalanx of the 5th toe Intrapartum fever HypomagnesiuriaFlexion contracture of the 4th toe Abnormality of the epiphysis of the Stippling of the epiphyses of the Late onset congenital glaucoma 4th finger Symphalangism affecting the Curved proximalTriangular phalanx shaped of theproximalphalanx 3rd ofphalanx the thumb alpha-fetoprotein Sphincter of Oddi dyskinesia Small epiphysis of the proximal Aplasia of the testes Toxemia of pregnancy toe phalanges of the hand phalanx of the 3rd finger finger Stippling Ivoryof the epiphyses epiphysesLoss of of offacial the the middle adiposeof the tissue 4th finger the 2nd finger phalanxOsteolytic of the thumbdefects of the phalanges phalanx of the thumb time system Nodular goiter Noncompaction cardiomyopathy Hypochromic microcytic anemia Ivory epiphysis of the proximal Webbed penis Broad distal hallux Neoplasm of the gastrointestinal Triangular epiphysesAbnormality ofproximal the 2nd phalanx of the epiphysesof the 3rdRecurrent fingerof the abscessdistal formation phalanges of the hand phalanges of the hand Synostosis of thumb phalanx Downslanted palpebral fissures phalanx of the 3rd toe Supernumerary testes Hypermagnesiuria Flexion contracture of the 5th toe Hematemesis Fragmentation ofPseudoepiphysis the epiphysis of of the proximalSmall epiphysis Proximalof the proximal symphalangism BracketAbsent epiphysis epiphyses of the of proximal the 2nd finger phalanges of the hand SymphalangismProximal/middle affecting symphalangismof the the 4th finger of fingerof the 3rd finger Decreased amplitude of sensory Multinodular goiter Azoospermia Fragmentation of the epiphysis of phalanx of the 5th toe Contractures of the distal Multiple intestinal Cone-shapedEnlarged epiphysisepiphyses of of the the proximal Irregular finger epiphyses ofPseudoepiphyses the 4th finger of the 3rd finger middleIvory phalanges epiphyses of theof the hand 3rd finger OverlappingSclerosis fingers of 4th finger phalanx Thyroid crisis Thyroid hyperplasia Irregular epiphysisIvory of epiphysis the distal of the middle Abnormality of the scrotum Hyperplasia of the Leydig cells Broad hallux Flexion contracture of 3rd toe Increased circulating renin level PituitaryAbnormality carcinoma of the thegastrointestinal proximal phalanx tract of the 4th Cone-shaped epiphysisphalanges of of the the phalanx hand of the 5th finger 5th finger action potentials Hypoalbuminemia Iron deficiency anemia Absent epiphysisSensory of the proximal impairment the distal phalanxPosterior of the 5th pituitary toe dysgenesis Penoscrotal transposition Maternal anticardiolipin1-5 finger complete antibody cutaneous interphalangeal joint of the 5th toe Premature epimetaphyseal fusion in Sertoli cell neoplasm proximalphalanx phalanges of the 3rd fingerof the phalanxhandAbsent of epiphysisthe 2nd finger of the proximal Stippling of the epiphysis of the Ivory epiphyses of the 4th fingerCerebellopontine angle arachnoid Sclerosis of thumb phalanxproximal phalanx of the 5th finger AbnormalityThyrotoxicosis of the with atrial diffuse septum goiter phalanx of thephalanx 3rd toe of the 3rd toe Small epiphysis of the distal phalanxTriangular epiphysis of the distal Increased urinary hypoxanthine Primary hypothyroidismtract Triangular epiphysisphalanxTriangular ofBracket of the the 3rd proximal epiphysisepiphyses finger of of the the proximal proximal Stippling of the epiphyses of theStippling 5th of the epiphysis of the Hyperthyroidism Hypoplasia of the iris dilator muscle S-shaped palpebral fissures Absent fifth fingernail Irregular epiphysis of theFragmentation middle of the epiphysis of positive syndactyly Perinephritis Premature epimetaphysealfoot fusion in finger proximal phalanx of the thumb middle phalanx of the 2nd finger cyst Partial absence of finger Upslanted palpebral fissure phalanx of the 3rd toe of the 5th toe phalanx of the 5th toe Tapered toe Flexion contracture of the hallux Smallphalanx epiphyses of the of 4th the phalanxfinger phalangesproximalFragmentation of phalanxthe of the2nd of hand offingerthe the epiphyses 4th finger of Stippling of the epiphysesfinger of the proximal phalanx of the thumb Sclerosis of the proximal phalanx of SymphalangismSymphalangism of the 2nd finger of the thumb Neoplasm of the thyroid gland Normocytic hypoplastic anemia the distal phalanx of theAbsent 3rd toeepiphysis of theSmall middle epiphyses of the 3rd toe tibia Bracket epiphyses of theAbsent phalanges epiphysis of the proximal Ivory epiphysis of the thumb Patchy sclerosis of finger phalanxSlender finger Hypercoagulability phalanxTriangular of the epiphysis 3rd toe of the middle Bracket epiphysisIrregular of the middleepiphysis of the proximal Ureteral duplication Contracture of the proximal Hematochezia phalanges of the hand 2nd finger AbnormalIvory immunoglobulin epiphysis of the level proximalBeta-cell dysfunction Sclerosis of the theproximal 3rd finger phalanx of Tapered phalanx of finger Abnormality of coagulation Graves disease Impairment of the the acoustic reflex Congenital goiter Euthyroid multinodular goiter phalanx of the 3rd toe Absent epiphysis of the distal Abnormality of corpus cavernosum Contracture of the Renal potassium wasting Contracture of the proximal Compensated hypothyroidism the proximal phalanges of the Brackethand Bracket epiphyses epiphysis of the of 5th the finger proximal Subluxation of the proximal Proximal/middle symphalangismOsteolytic of defects of the proximal Increased red cell sickling tendency Microcytic anemia Bracketphalanx epiphysisof the 3rd oftoe the proximal Triangularphalanx epiphysis of the of 5th thephalanx toe proximal of the 5th toe Abnormality of the testis Cutaneous syndactyly between Hypophosphaturia Intestinal carcinoidof the handTriceps phalanx aplasia of the 5th finger phalanx of the 2nd finger Radial deviationthe of Sclerosis4th the finger hand ofor theof distal phalanx of the Sclerosis of the middle phalanx of Long phalanx of finger Abnormality of the epiphysisBracket ofepiphyses the of the 3rd toe phalanx of the 5th toe Abnormalityinterphalangeal of blood interphalangealglucose joint of the joint4th toeof the 2nd toe Flat acetabular roof Abnormality of the acetabulum Absent epiphyses of the phalangesphalanx of the thumb Thin proximal phalangesReduced with broad interphalangealpancreatic beta jointcells of the little 4th finger Tombstone-shapedphalanges ofproximal the hand Elevated amniotic fluid phalanx of the 3rd toe phalanx of the 5th toe Cone-shaped epiphysis of the Absent penis Abnormal urine sodiummetatarsophalangeal joint of the 5th Premature epimetaphyseal fusion in Bifid distal phalanx of toe TriangularEnlarged epiphysisepiphysis ofof thetheStippling proximalproximal of the epiphysis ofIvory the Stippling epiphysis of of the the epiphyses proximal of the 3rd fingers of the hand 3rd fingerLong fingers Proximal/middlethe 4th fingersymphalangism of Euthyroid goiterLester's sign Triangular epiphysis of the distal fingers 2 and 5 Anterior pituitary dysgenesis Premature epimetaphysealconcentration fusion in Hypoplasia of the Absent metatarsal boneStippling of the epiphysis of the FragmentationBiceps aplasia of the epiphysis of epiphyses of theSclerosis hand of proximal fingerfinger phalanx Symphalangism affecting the phalangesOsteolytic defects of the phalanges Compensatory chin elevation Hyperalbuminemia Biliary dyskinesia Triangular epiphysis of the proximalmiddle phalanx of the 3rd toe Fragmentation of the epiphyses proximalof phalanx of the 5th toe 3-4 finger cutaneous syndactyly Contracture of the distaltoe phalanx of the 2nd fingerof the hand fingerPseudoepiphysis of the distal Buphthalmos Osteolytic defects of the middle Thyrotoxicosis from ectopic thyroid alpha-fetoprotein phalanx of the 3rd toe Abnormality of the epiphysis of the Absent epiphyses of the 3rd toe Bracket epiphyses of the 5th toe Bifid penis Partial development ofAbnormality the penile of the Leydig cells concentration Contracture of the interphalangealfibula radius proximalproximal phalanx phalanx of the 5th of fingerthephalanx 2nd finger of Stippling the 4th finger of thumbthe proximal epiphysis phalanx of the 2nd Tapered finger proximal phalanx of the 3rd finger the 2nd finger of the hand Absence of acoustic reflex Central heterochromia Congenital hypoplastic anemia Ivory epiphysis of the proximal the 5th toeIvory epiphysis of the distal phalanx Hypoplasia of the vagina Metatarsal osteolysis Long proximalFusion phalanx of midphalangeal of finger joints Thyrotoxicosis with toxic single tissue Hypoplastic iris stroma Congenital primary aphakiaHypertrophic cardiomyopathy phalanxFragmentation of the 3rd toedistal of the phalanx epiphysis of the of 3rd toe shaft interphalangeal jointContracture of theRenal 4th oftoe phosphate the distal wasting joint of the hallux Duplication of metatarsal bones CarcinoidAbsent epiphysis ofAbnormality the proximal of the epiphyses of the phalanx of the 2ndfinger finger Deviation of the hand or ofSclerosis fingers of of finger phalanx Proximal/middle symphalangismphalanx ofof the 2nd finger phalanx of the 3rd toe Abnormality of the epiphysisof the 5th of toe the Maternal fever in pregnancy Decreased purine levels Stippling of the epiphysis of the thyroid nodule Absent fingernail Hypochromic anemia Pre-B-cell acute lymphoblastic the middle phalanx of the 3rd toe interphalangealContracture of joint the of the 3rdContracture toe of the phalanx of the 3rdproximal finger phalangesStippling of the of thehand epiphysis Ivory of epiphysis the of the proximal the hand Duane anomaly Abnormality of the epiphysesSmall epiphysis of the of the proximal Abnormal urine magnesium Contracture of the proximal Irregular epiphysis of the 1st Hypothyroidism proximal phalanx of the 3rd finger Proximal symphalangism (hands) 3rd finger Cor triatriatum dexter Photosensitive tonic-clonic seizures Irregular epiphysis of the proximal Triangular epiphysis of the proximal proximalCone-shaped phalanx epiphysesof the 5thAbnormality toeof the 5th of the epiphyses of the Torsion of the penis metatarsophalangeal joint of the 4th Partial absence of foot Stippling of the epiphysisdistal of thephalanx of the 3rdphalanx finger of the 3rd finger SymphalangismOsteolyticOsteolytic defects defectsaffecting of the of the phalangesthe phalanges Goiter Chaotic rapid conjugate ocular leukemia Abnormality of the epiphysisEnlarged of the epiphysisAbnormal of theurine middle output 3rd toe phalanx Abnormalityof the 5th toe of the epiphysis of the Bracket epiphysis of the Longdistal penis Chordee metatarsophalangeal joint of the 3rd interphalangeal joint of the Hyperactive3rd toe renin-angiotensin Gastrointestinal hemorrhage Fragmentationmetacarpal of the epiphysis of Hypoplastic anemia Fragmentation of the epiphysis of Irregular epiphyses of the 3rd toephalanx of the hallux Cone-shaped epiphysis of the distal toe 5th toe concentration toe Hyperphosphaturia Pyelonephritis proximal phalanx of the 4th finger Osteolyticproximal defects phalanges of theof proximal2nd the of thefinger3rd handfinger Atrial septal aneurysm Elevated right atrial pressure Impairment of the reflex of the movements phalanx of the 3rd toe proximal phalanx of the 3rd toe Stippling of the epiphysis of the Aplasia/Hypoplasia of the testes phalanx of the 5th toe Progressive forgetfulnessBifid uretertoe Tracheoesophagealsystem fistula Hypoglycemic seizures Triangular epiphysis of the 1st Ivory epiphysis of theShort proximal femoral neck Normocytic anemia the proximal phalanx of the 3rd toe phalanx of the 3rd toe FragmentationCone-shaped of the epiphysis epiphysis of ofdistal the phalanx of the 5th toe Melena the 1st metacarpal Symphalangismphalanx of theaffecting 2nd finger the tensor tympanii muscle Takotsubo cardiomyopathy Hemobilia middle phalanx of the 3rd toe Ivoryphalanx epiphysis of the of5th the Irregulartoe middle Triangular epiphysis epiphyses of the distal of the 5th toe Nephritis Contractures of the proximal Fibular Enlargedmetaphyseal epiphysis irregularity of the 1st metacarpal Ivory epiphysesphalanx of the proximalof the 5th finger Wide distal femoral metaphysis Slender proximal phalanx of finger Childhood-onset truncal obesity Abnormal albumin level Upbeat nystagmus Ph-positive acute lymphoblastic Cone-shaped epiphysisEnlargedTriangular ofepiphysis the epiphysesof the distal of the 3rd toe the middle phalanx of the 5thAbsent toe epiphysis of the middle 2-4 finger syndactyly Pituitary resistance to thyroid Elevated alpha-fetoprotein Absent fifth toenail middle phalanxphalanx of the of 5ththe toe5th toephalanx ofStippling the 5th oftoe the epiphysis of the 4-5 finger syndactyly Renal chloride wasting interphalangeal joint of the 5th toe metacarpal phalanges of the hand proximal phalanx of the 4th fingerProgressive fusion 2nd-5th pip joints Congenital neutropenia Abnormal conjugate eye movement Impaired convergence Abnormal shapeDilated of thecardiomyopathy palpebral Refractory sideroblastic anemia leukemia middle phalanx of thephalanx 3rd toe of Fragmentationthe 3rd toe of the epiphyses Irregularof epiphysis of the middle PseudoepiphysisTarsometatarsal of the 1st synostosis Absent epiphysis of theStippling proximal of the epiphysis of the Osteolytic defect of thumb phalanx Impaired ocular Neutropeniaadduction Paroxysmal involuntary eye Absent epiphysisphalanx of of the the 5th proximal toe middle phalanx of the 5th toe Finger syndactyly Hypochloriduria hormone Premature epimetaphyseal fusion in Broad metatarsal Bracket epiphyses of the thumb Sclerosis of the 1st metacarpal Arachnodactyly fissure PseudoepiphysisPseudoepiphysis of the distal of the middle the 3rd toe phalanx of the 5th toe Ivory epiphyses of the 5th toe 1-2 finger syndactyly metacarpal phalanx of the 2nd Proximalfingerdistal phalanx femoral of themetaphyseal 2nd finger movements Horizontal opticokinetic nystagmus Stippling of the epiphysis of the Pseudoepiphysisphalanx ofof thethePseudoepiphysis proximal5th toe of the distal Increased urinary potassium Flexion contracture of toe Hiatus hernia Absent epiphyses of the proximal Symphalangism affecting the Thyroglossal cyst Generalized tonic-clonic seizures on Anemia due to reduced life span of phalanx of the phalanx3rd toe of the 3rd toe Ivory epiphyses of the 3rd toe Chronic rhinitis due to narrow nasal ulna Aplasia of the ovary Expanded metatarsals with widened abnormality Congenital finger flexion Truncal obesity Hyperproteinemia Hypoplasia of the iris Restrictive cardiomyopathy Bile duct proliferation Absent nail of hallux distal phalanx of the 3rd toe phalanx of the 5th toephalanx of the 5th toe Stippling of the epiphysis of the Congenital hypothyroidism phalanges of the hand Absent fifth metatarsal SuprasellarHand muscle arachnoid weakness cyst Synostosis involving bones of the proximal phalanx of the 2nd finger awakening Opsoclonus Unilateral strabismus Microphakiared cells Ivory epiphysis of the distal phalanx Enlarged epiphysis of the proximal Deficit in phonologic short-term Abnormalairway urine potassium Aplasia/Hypoplasiamedullary involving cavities bones Camptodactyly Abnormality of the fingertipscontractures Early onset of sexual maturation Abnormality of eye movement Aplasia/Hypoplasia of the lens PseudoepiphysisCone-shaped of the proximal epiphysisEnlarged of the epiphysis distal Cone-shapedof the proximal epiphyses of the 3rd Small epiphysesAbsent epiphyses of theproximal 5th of toe the phalanx 5th toe of the 5th toe 3-4 finger syndactyly Abnormality of the nasal cavity Short first metatarsal Synostosis involving digits Flared distal tibial metaphysis fingers Neonatal hypoproteinemiaPhotomyoclonic seizures Abdominal ectopia cordis Downbeat nystagmus Normochromic anemia of the 3rd toe phalanxAbnormality of theIrregular of 5th the toe epiphysis epiphyses of of the the 5th toe Abnormality of the nasal skeleton memory concentration of the feet Waldenstrom macroglobulinemia Broad fingertip Congenital glaucoma Abnormal peripheral action potential Sideroblastic anemia T-cell acute lymphoblastic leukemias phalanx of the phalanx3rd toe of the 3rd toephalanx of the 3rd toe Stippling of the epiphyses of the 3rd Maternal autoimmune disease Recurrent cystitis Abnormality of renin-angiotensin Cone-shapedBracket epiphysis epiphysis of the of1st the 1st Slanting of the palpebral fissure Pyridoxine-responsive sideroblastic Cone-shaped epiphysis of the toe Small epiphysismiddle of phalanx the middle of the 5th toe Ectopic anterior Triangular epiphyses of the Commonamplitude atrium Absence of the reflex of the tensor Oncocytic cardiomyopathyAtrial cardiomyopathy Gaze-evoked horizontal nystagmus Monocular horizontal nystagmus Triangular epiphysis of the distaltoe Abnormal urine chloride Abnormal urine phosphate Triangular epiphyses TracheobronchomalaciaWhite mater abnormalities in the system Small epiphysis of the 1st metacarpalmetacarpal Ivory epiphyses of the phalangesDistal femoral ofAdrenal metaphyseal pheochromocytoma Elevated C-reactive protein level Anemia of inadequate production anemia Acute lymphatic leukemia proximal phalanx of the 3rd toe Pseudoepiphyses of the 3rd toe phalanx of the 5th toe Abnormality of the penis Transitional cell carcinoma of the Abnormality of purine metabolism metacarpals Abnormality of the epiphysis of the Stippling of the epiphyses of the Arthrogryposis-like hand anomaly Synostosis of the proximal phalanx Proximal finger joint Reduced thyroxin-binding globulin tympaniNeonatal muscle alloimmune Uncontrolled eye movements Stippling of the epiphysis of the Enlarged epiphysesTriangular of theepiphyses 3rd toe of the hallux Narrow penis Maternal virilization in pregnancy concentration concentration posterior periventricular region CamptodactylyTibial metaphyseal of toe irregularity metacarpal Aplasia of the musculature the hand abnormality Supranuclear ophthalmoplegia Abnormal involuntary eye Thoracic ectopia cordis phalanx of the hallux bladder RecurrentPremature pyelonephritis epimetaphyseal fusion proximal phalanges of the hand Wide proximal femoral metaphysis of the thumb with the 1st hyperextensibility Abnormality of thyroid morphology Chronic pancreatitis thrombocytopenia Myoclonic atonic seizures CongenitalRight strabismus ventricular cardiomyopathy Hypoplastic fifth toenail proximal phalanx of the 3rd toe Micropenis 3-5 finger syndactylyPeripheral retinal cone degeneration Aplasia/Hypoplasia of the vagina Premature epimetaphysealLaryngotracheomalacia fusion in Renal cortical adenoma 1stAplasia/Hypoplasia metacarpalNeoplasm of of the metatarsal anterior pituitary Broad 1st metacarpalPancreatic islet-cell hyperplasiaPrimary congenital glaucoma Internal ophthalmoplegia Amegakaryocytic thrombocytopeniaIntermittent thrombocytopeniaHeterochromiamovements iridis Strabismus Abnormal biliary tract physiology Pseudoepiphysis of the middle Pseudoepiphyses of the 5th toe neoplasiaCone-shaped epiphysis of the 1st Dislocation of toes DuplicationSynostosis involvingAbnormality involving bones bones of of the the of third the metatarsal Patchy sclerosis of the 1st metatcarpal Hyperpepsinogenemia I Abnormal spermatogenesis Vertical nystagmus hand Enlarged polycystic bones Extraadrenal pheochromocytoma Abnormality of the pancreatic islet Myoclonic absences Cone-shapedBracket epiphysisepiphysis ofof thetheCone-shaped distal epiphyses of the hallux Hyperchloridura Bladder carcinoma metatarsal Enlarged metacarpal epiphyses feet Metatarsusbone valgus Panniculitis Abnormality of themetacarpal pancreas Aplasia of theSmall 1st thenar metacarpal eminence Fragmentation of the epiphysis of phalanx of the 5th toe 1-3 finger syndactyly Memory impairment Abnormality of basophils feet Abnormality of the fifth metatarsal cells Hypoproteinemia Oligospermia Thoracoabdominal ectopia cordis Horizontal jerk nystagmus Bracket epiphysis of the proximal proximal phalanxphalanx of of the the hallux hallux Neoplasm of the posterior pituitary Abnormal autonomic nervous Renal pelvic carcinoma Mouth neoplasm Osteolysis involving bones of the Arachnoid cyst Cervical platyspondylyPremature adrenarche Abnormality of the acoustic reflex Cervical ectopia cordis the proximal phalanx of the 2nd toe Absent epiphysis of the proximal Skewed maternal X inactivation Prominent nasolabial fold Facial neoplasm Distal tapering of metatarsals Short third metatarsal bone Limited extraocular movements Horizontal nystagmus phalanxFragmentation of the 2nd of thetoe epiphysis of AbnormalityBracketStippling of epiphyses theof the epiphyses epiphyses of the of toes theof the 5th system morphology Vaginal fistula feet Second metatarsal posteriorly Epiphyseal stippling of finger Broad femoral metaphyses Patchy sclerosis of hand bones Chronic calcifying pancreatitisAbnormality of cardiac atriumThrombocytopenia Congenital exotropia Acute megakaryocytic leukemia Irregular epiphysis of the middle phalanx of the Stipplinghallux of the epiphysis of the 2-5 finger syndactyly Tracheobronchmegaly Proximal femoral metaphyseal Total ophthalmoplegia Absent toenail Acute myeloid leukemia the middle phalanx of the 2nd toe Bracket epiphyses of the 2nd toe Absent epiphysis of the distal AbsentEnlargedAnomalous hallux epiphysis epiphysis origin of ofthe left distalhallux coronary toe Unexplained fevers Fragmentation of the metacarpal Quadricepsplaced aplasia Osteolysis of talus Curved 1st metacarpal Hyperextensibility of the finger joints Thoracocervical ectopia cordis Congenital horizontal nystagmus distal phalanx of the 5th toe 1-5 finger syndactyly UrethrovaginalBladder fistula neoplasm Renal oncocytoma Absent foot irregularity Aplasia/Hypoplasia of phalangesthe fifth Abdominal obesity Posterior vertebral hypoplasia AtransferrinemiaRecurrent pancreatitis Congenital septal defect Alternating esotropia phalanx of the 2nd toe Small epiphysis of the proximalphalanx of the hallux Triangular epiphysisphalanx of the ofmiddle theCone-shaped 5th toe epiphyses of the toes 2-3 finger syndactyly Severe hydrocephalus Absent epiphysis of the 1st Calcaneonavicular fusion Absence seizures with eyelid Exotropia FragmentationBracket of the epiphyses epiphysis of of the proximalAbnormality Bracketof the epiphysis epiphyses of ofthe the hallux artery from the pulmonary artery Abnormality of the epiphyses of the Noncommunicating hydrocephalus Total anosmia Cone-shapedUrogenital epiphysis fistula Proximal femoral epiphysiolysis Pseudoepiphyses of handepiphyses bones metatarsal bone Exocrine pancreatic insufficiency Progressive ophthalmoplegia Gaze-evoked nystagmus Bracket epiphysis of the middle Cone-shapedphalanx epiphysis of the of thehallux distal phalanx of the 5th toe HyperemesisMaternal gravidarum teratogenic exposure RecurrentBracket bronchopulmonary epiphyses metacarpal Hypoplasia of the calcaneus myoclonia phalanx of the halluxAbnormality ofproximal the epiphyses phalanx of of the the hallux toes Osseous finger syndactyly Transient global amnesia Recurrent streptococcusChronicEnlargement rhinitis of the distal femoral Polycystic ovaries Lower-limb metaphyseal irregularityShort foot Abnormality of exocrine pancreas Generalized tonic-clonic seizures Cardiomyopathy Anonychia Acute monocytic leukemia phalanxBracket of the epiphysis 2nd toe of the distal the 2nd toe phalanx of the hallux FragmentationTriangular of the epiphyses epiphyses of of the toes Neoplasm of the scrotum infections Urinary tract neoplasm Flexion contracture of digit Distal arthrogryposis Multiple pancreatic beta-cell Shortening of the talar neck Acute pancreatitis 2nd toe Enlarged epiphysis ofEnlarged the middle epiphyses of the 5th toe 1-4 finger syndactyly pneumoniae infections epiphysisOvarian serousBronchomalacia cystadenomaRecurrent urinary tract infections Pseudoepiphyses of the metacarpals Erlenmeyer flask deformity of the Hand clenching Hypoplastic left atrium phalanx of the 2nd toe Fragmentation of the epiphyses of Narrow nasal base Myxoid liposarcoma adenomas PhalangealSmall dislocation hypothenar eminence Abnormality of pancreas physiology physiology Hypoplastic coccygeal vertebrae Esotropia Nystagmus-induced head nodding Fragmentation of the epiphysis of phalanx of thethe 5th toes toe Decreased renal tubular phosphate Congenital agranulocytosis Aplasia/Hypoplasia of the ovary SupernumeraryAbnormality of vertebral the second Flared distal fibular metaphysis Nonmotile sperm Congenital nystagmus Horizontal pendular nystagmusSeesaw nystagmus Pseudoepiphysis of the proximal the hallux Bulging epiphyses Multifocal cerebral white matter Broad metacarpal epiphysesAbnormality of the metatarsal bones femurs AbsentInterphalangeal leukocyte alkaline jointPancreatitis erosions Early onset absenceAutoimmune seizures hemolytic anemia the distal phalanx of the 2nd toe excretion Wide nasal base Aplasia of the pectoralismetatarsal major bone Y-shaped metatarsals Aplasia/Hypoplasia of the tarsal Pilonidal abscess Abnormality of the reflex of the Acute promyelocytic leukemia Abnormality of the epiphysis of the phalanx of the hallux Small epiphyses of the hallux Small epiphyses of the toes Hemorrhagic abnormalities ossification centers phosphatase Ivory epiphysis of the distal phalanx Absent epiphyses of the toes Urethral fistula Small distal femoral epiphysis bones Weakness of the intrinsicThenar hand muscle atrophy Central vertebral hypoplasia Abnormality of circulating protein tensor tympaniiHeparin-induced muscle thrombocytopenia Absent epiphysis ofproximal the proximalSmall phalanx epiphysis of the of 2nd the toe distal phalanx Small epiphysis of the distalAbnormality phalanx of the epiphysis of the Underdeveloped nasolabial fold Tracheomalacia Premature fusion ofmuscle phalangeal Aplasia/HypoplasiaPustuleDisproportionate involving the prominence of the Insulinoma Intrinsic hand muscle atrophy Rocker bottom foot Prominent proximal interphalangeal Generalized myoclonic seizures Reduced sperm motility of the hallux Bronchiectasis Absent primary metaphyseal Bracket metacarpal epiphyses Tarsal synostosis Abnormality of the femoral muscles Pointed hand bones level Hypoplastic toenails Pendular nystagmus PseudoepiphysisphalanxCone-shaped of the of themiddle epiphysis2nd toe of theEnlarged of the 2nd epiphysis toe of the proximal Hypoplasia of penis Snowflake retinal degenerationPeripheral vitreoretinal degeneration Abnormality of the anterior pituitary Focal white matter lesionsPrimary ovarian failure Embryonal renal neoplasm epiphyses Abnormality of the femoralmusculature neck or of the upperfemoral arm medial condyle Flared femoral metaphysis Tarsal osteovalgus Cholangiocarcinoma joints Acute leukemia Enlarged epiphysis of the middleof the hallux distal phalanx of the hallux Partial anosmia Specific anosmia Flattened metatarsal heads Abnormality of theHypotrophy thenar eminence of the smallAbnormality hand of the talus Soft tissue swelling of Cor triatriatrum Ectopia cordis phalanx ofmiddle the 2nd phalanx toe of the 2nd toe Irregular epiphyses of the hallux Communicating hydrocephalus Abnormality of the nasolabial region Recurrent infections due to Cone-shaped capital femoral spongiosa Irregular epiphyses of the Dysplasia of the femoral head Shorthead second regionDistal metatarsal tapering femur metaphysis Abnormality of the thyroid gland Valgus hand deformity Vertebral hypoplasia Rotary nystagmus phalanx of the 2nd toe Abnormality of metatarsalMigraine epiphysis withAbnormality aura of the internal capsuleCone-shaped metacarpal epiphyses Short fifth metatarsal Pancreatic calcification Hypoplastic 5th lumbar vertebrae Iris transillumination defect Nystagmus Spasmus nutans Biphenotypic acute leukaemia Abnormality of the epiphysisphalanx of the ofCone-shaped the 2nd toeSmall epiphyses epiphyses of theIrregular of 2ndthe 2nd epiphysis toe Scrotal of the hypoplasia distalDecreased testicular size Anomalous origin of right coronary aspiration epiphysis Renal neoplasm metacarpals Aplasia/Hypoplasia of the Hypoplasia of deltoid muscle muscles interphalangeal joints Congenital thrombocytopenia Triangular epiphysis of the middle Small epiphysis of the Absentproximal epiphyses ofIrregular the 2nd epiphysistoe of the proximal MaternalHodgkin seizureslymphoma Recurrent sinopulmonary infectionsEnlarged epiphyses Epiphyseal stippling of the first Osteolysis involving tarsal bones Flared lower Pancreaticlimb metaphysisAbnormality islet cell adenoma of the 1st metacarpal Undermodelled hand bones Prominent interphalangeal joints Abnormality of the cardiac septa Midline direction of ventricular apex middle phalanx of the 2nd toe toe phalanxEnlarged of the hallux epiphysis of the distal Ivory epiphyses of the hallux Microphallus Abnormality of the epiphysesPartial of hyposmia the Small epiphyses Osteoporotic metatarsal quadriceps OvermodelledSymphalangism hand bones of the proximal Ophthalmoplegia Absent epiphysis of Cone-shapedthe middle epiphysisphalanx of the distal2nd toe phalanx of the hallux Pseudoepiphyses of the hallux Pseudoepiphysesartery from the pulmonary of the toes arteryIvory epiphyses of the toes Neoplasm of the penis Cognitive impairment Pseudoepiphyses of second metacarpal Upper limb muscle hypoplasia Obesity Absence seizures with special phalanx of the 2nd toe Pseudoepiphyses of the 2nd toe Fragmentation of the epiphysis of Enlarged epiphyses of the toes AgranulocytosisPrenatal maternal abnormality feet Metaphyseal chondromatosis of Pes planus Abnormality of the hypothenar phalanx of the 4th finger with the 4thPrimary angle closure glaucomaBipartite calcaneus Abnormal sperm motility phalanx of the 2nd toe phalanx of the hallux Fragmentation of the epiphysis of Cone-shaped epiphyses fused Flat distal femoral epiphysis metacarpal Flattened femoral head MetatarsusIvory adductus epiphysis of the 1st metacarpal features Hypoplastic thumbnail phalanxIrregular of the epiphysis 2nd toe of the proximal Irregular epiphyses of the 2nd toe the distal phalanx of the hallux Enlarged epiphyses of Irregularthe hallux epiphyses of the toes humerus Enlargement of the proximal femoral Femoral bowing present at birth, Partial fusion of tarsals eminenceSynostosis involving the 1st Ivory epiphysis of the proximal Fragmentation of the epiphysis of the 1st metatarsal Drug-induced agranulocytosis within their metaphyses Small epiphysesFragmented of the metacarpals epiphyses of the upper Irregular tarsal bones metatcarpal Equinus calcaneus Limited mobility of proximal Thyroiditis phalanx of the 2nd toe Triangular epiphyses of the 2nd toe Stippling of the epiphysis of the Abnormality of the posterior pituitary BronchodysplasiaRecurrent respiratory infections Aplasia involving bones of the lower Structural foot deformity straightening with time Abnormal hand morphologySymphalangism of the proximal Short nail Abnormalityphalanx of the epiphysis of the 2nd of toe the the proximal phalanx of the halluxIvory epiphysis of the proximal Pseudoepiphyses epiphysis limbs Enlarged ovaries ProgressiveArthrogryposisAbnormality ptosis multiplex of the congenita fourth metatarsal Synostosis of metacarpal Swelling of proximal interphalangeal Functional abnormality of maleTypical absence seizures Small epiphysis of the middle distal phalanxStippling of the halluxof the epiphysis of the Abnormality of the epiphysis of the Episodic fever Bladder fistula Respiratory infections in early life Bronchomegaly Tracheomegaly Absent metacarpal epiphyses First dorsal interossei musclelimbs Aplasia of the tarsalAplasia/Hypoplasia bones of the 1st phalanx of the 3rd fingerAbnormality with the of the calcaneus Abnormality of phalangealinterphalangeal joints of joint distal phalanx of the 2nd toe Pseudoepiphysis of the distalEnlarged epiphysis of thephalanx proximal of theStippling hallux of the epiphyses of the Abnormal nasal base Abnormality of granulocytes Ovarian cyst Neoplasm of head Lateraland neck displacement of theThin femoral metatarsal cortices metacarpals/metatarsals joints Atonic seizuresinternal genitalia Pseudoepiphysis of the proximal Abnormality of the upper urinary Wide capital femoral epiphyses atrophy Plantar flexion contractures bone Short metatarsal Elevated alkaline phosphatase of Pheochromocytoma Talocalcaneal synostosis Proximal phalangealmetacarpal periosteal 3rd metatcarpal Small nail phalanx of the 2nd toe phalanx of the hallux phalanxproximal of the phalanx hallux of the hallux hallux 1st metatarsal Low-grade fever Transverse vaginal septum Small proximal tibial epiphyses Metaphyseal dappling Gastroparesis head Progressive pes cavus Adrenal calcification Pancreatoblastoma the hand Rightward direction of ventricular Acute myelomonocytic leukemia phalanx of the 2nd toe Ivory epiphyses of the 2nd toe Peripheral retinal degeneration Metaphyseal chondromatosis of ulna Progressive distal muscular atrophy Congenital contractureKaposi'sLow alkaline sarcoma phosphatase of hepatic thickening Prominent calcaneus Narrow small joints of the hand Aplastic/hypoplastic toenail Triangular epiphysisCone-shaped of the proximal epiphysis of the Epiphyseal stippling of toe Partial vaginal septum tract Irregular distal femoral epiphysis RhinitisTesticular neoplasm Flat capital femoral epiphysis Allergic rhinitis Congenital foot contraction Longbone foot origin Advanced tarsal ossification Symphalangism of the proximal apex Hypoplastic fifth fingernail Enlarged epiphyses of the 2nd toe Renal salt wasting Short fourth metatarsalorigin Coalescence of tarsal bones Mitten deformity Underdeveloped supraorbital ridges Asymmetry of iris pigmentation phalanx ofproximal the 2nd phalanxtoe of the 2nd toe Enlarged epiphysis of the 1st phalanges Abnormality of liposaccharide Ivory epiphyses Abnormality of the femoraldeformities head Hand muscle atrophy Triangular shaped 1st metacarpal phalanx of the 5th finger withBiliary the 5th tract neoplasm Enlarged metacarpophalangeal joints Focal T2 hyperintense thalamic Stippling of the epiphysis of the Stippling of the epiphyses of the AbnormalityImpaired of renal renal excretion uric acid clearance Metaphyseal chondromatosis of Irregular proximal tibial epiphysesAbnormality of the distal femoral Abnormality of metacarpal epiphyses Aplasia/HypoplasiaPeg-like central prominence involving the of distal Focal T2 hypointense thalamic lesion Ivory epiphysis of the middle metatarsal Normal pressure hydrocephalus Lymphoma metabolismSeptate vagina Abnormal urinary electrolyte Club-shaped proximal femur Low placental alkaline phosphatasemetatcarpal Calcaneovalgus deformity Abnormal glycosylation lesion Blue irides Absent epiphysisproximal of phalanx the distal of the 2nd toe 2nd toe Ureter fissus radiusRecurrent bronchiolitis Vaginal hernia Tibialis atrophy femoraltibial head metaphyses and neck Brushfield spots Triangularphalanx epiphysis of ofthe the 2nd distal toeStippling of the epiphysis of the Absent epiphyses of the 4th toe concentration epiphysis Cartilaginous trachea Irregular, rachitic-like metaphyses Hypoplasia of the lesser trochanter Impotence Hyperplasia of the femoral Symphalangism of theSclerotic proximal foci in hand bones Post-transfusion thrombocytopenia Muscular subvalvular aortic Hyperconvexstenosis thumb nails Chronic myelomonocytic leukemia Transient myeloproliferative phalanx of the 2nd toe Abnormality of the epiphyses ofIvory the epiphysis of the 1st metatarsal Stippling of the epiphysis of the 1st Fragmented epiphyses Bronchial cartilage hypoplasia Abnormality of the epiphysis of the Contractures involvingMedial the joints rotation of of the medial Narrow foot Iodine contrast allergyNonossified fifth metatarsal Abnormality of peripheral nerve Hyperextensible thumb phalanx of the 2nd toe middle phalanx of the 2nd toe Hydrocephalus Fever Vitreoretinal degeneration Nasal obstruction Granulocytopenia Anomalous tracheal cartilage Premature ovarian failure trochanters Large tarsal bones Irregular sclerosis of hand bones Reduced leukocyte alkaline Reduced proximal interphalangeal Biliary tract abnormality syndrome Small epiphysis of the distal phalanx 4th toe metatarsal Neoplasm of the femoral head Broad femoral head the feet malleolusElevated alkaline phosphatase of Trapezoidal distal femoral condyles Decreased subcutaneousBullet-shaped fat 1st metacarpal Large handsphalanx of the 2nd finger with the Subluxationconduction of the small joints of the Partial aniridia Fragmentation of the epiphyses of RecurrentVaginal pruritus lower respiratory tract Diffuse swelling of cerebral white Interosseus muscle atrophy Short corpus callosum BifidShoulder femur muscle hypoplasia Recurrent otitis media phosphatase joint space T2 hypointense thalamus Stellate iris Triangular epiphyses of the 4th toe Anomalous origin of coronary artery Autonomic bladder dysfunction Ureter duplex Absent epiphysesAbnormality of the proximal tibial Rounded epiphyses hepatic origin Hypoplasia of the femoral head Delayed talus ossificationMetacarpophalangeal synostosis Low2nd intestinal metatcarpal alkaline phosphatase Generalized tonic seizures Bifid nail Membranous subvalvularHyperconvex aortic fingernails Irregular epiphysis of the distal of theAbsent 4th toe epiphysis of the distal Short nasal bridge Irregular femoral epiphysis Abnormality of the cerebral white Abnormality of the musculature of Pancreatic squamous cell carcinomaShort 1st metacarpal hand Abnormality of theOnychogryposis palpebral fissures of fingernail Stippling of the epiphysis of the the 4th toe from the pulmonary artery Total hyposmia infections epiphysis matter Patchy osteosclerosisEquinovarus deformity Sclerosis of hand bones with Hypoplastic sacral vertebrae Hypoplastic fingernail Ivory epiphysisphalanx of the ofdistal the 2ndphalanx toe phalanx of the 4th toe Irregular epiphysisTriangular of theepiphysis 1st of the 1st matter Joint contractures involving the Aplasia/hypoplasia of the femur Pancreatic adenocarcinoma Elevated leukocyte alkaline Aplasia/Hypoplasia of the nails stenosis Enlargeddistal epiphysis phalanx of theof the distal 2nd toe Small epiphyses of the 4th toe Bracket epiphysis of the 1st Longitudinal vaginal septum Anosmia Multinucleated giant chondrocytes Irregular capital femoral epiphysis Renal angiomyolipomaIntestinal edema Abnormality of the femur the hand Flattening of the talar domeRadial deviation of the hand Delayed calcaneal ossification Juvenile myelomonocytic leukemia Fragmentation of the epiphysis of metatarsal Absent epiphysis of the 1st AbnormalityFragmented, of the bladder irregular epiphyses Metaphyseal enchondromatosisEpiphyseal streaking Corner spurs (humeral metaphyses) Lymphoproliferative disorderAbnormality of femoral epiphysis Delayed femoral head ossificationAbnormality of the epiphyses of the Abnormality of adiposeAbnormality tissue of endocrine pancreas phosphatase transverse striations Male hypogonadism Congenital nonbullous ichthyosiform Myeloid leukemia of the 2nd toephalanx of the 2nd toe metatarsal Prominent nasal bridge in epiphyseal cartilage joints of the feet Absent tibia Low alkaline phosphatase of bone FemoralLaterally aplasia deficient tibial plateaux Abnormal thalamic size Abnormal thalamic MRI signal Abnormal direction of ventricular Broad nail metatarsalmetatarsal Displacement Autonomic of erectile the external dysfunction Accelerated bone age after puberty Central hypothyroidism hand Club-shapedphysiology distal femur NeoplasmAbnormality of the of pancreasthe tarsal bones Notched hand bones Autoimmune neutropenia Congenital bullous ichthyosiformerythroderma the distal phalanx of the 4th toe Cone-shaped epiphyses of the 4th Pseudoepiphysis of the 1st Marked delay in bone age Central diabetes insipidus Bladder stones Irregular epiphyses Migraine without aura Abnormality of the proximal fibular Irregular epiphyses of the upper origin intensity Localized Hyperconvex nail Lethal infantile mitochondrial Symmetric spinal nerve root Liposarcoma Nephroblastoma (Wilms tumor) Abnormality of the arachnoid mater Hyperextensible hand joints Onychogryposis of toenailsCongenital curved nail of fourth toe apex Nail pits AbsentSmall epiphysis epiphysis of theBracket of proximal the epiphyses proximal of the 4thtoe toe urethral meatus Cystic retinal degeneration Hydrometrocolpos epiphysis Diverticulosislimbs of tracheaSubcutaneous Renal sarcoma Low tissue non-specific alkalineFoot asymmetry Aplasia involving bones Aplasiaof the upper of the femoral neck Glaucoma Joint hyperflexibility erythroderma Hyperconvex toenail Absent epiphysis of the middle metatarsal Progressive retinal degeneration myopathy neurofibromas Broad foot Neoplasm of the Anejaculation Pseudoexfoliation Pseudoepiphysis of the distal Myeloproliferative disorder phalanx of the 4th toe Neoplasm of the male external Imperforate hymen Chevron-shaped/cone-shaped ParaspinalAplasia neurofibromas of the falx cerebri Elevated tissue non-specific Abnormalalkalinephosphatase metatarsal ossification Cow milk allergyOvarian teratoma Primary open angle glaucoma Abnormality of the supraorbital Generalized clonic seizures Olfactory Concave nail phalanx ofphalanx the 4th oftoe the 4th toe Enlarged epiphyses of the 4th toe Erectile abnormalities Metaphyseal sclerosis Excessive femoral anteversion limbs DeformedOsteolytic tarsal defects bones of the hand bones Enlarged Decreasedthalamic volume thalamic volume phalanx of the 2nd toe Triangular epiphysis of the proximal Small epiphysis of the 1st metatarsal Epispadias genitalia Metaphyseal chondromatosis of tibia radial epiphyses Abnormality of epiphysisFlattened morphology femoral epiphysis Abnormality of tibial epiphysesPlexiform phosphatase Aplasia/Hypoplasia of the tibia Hemoperitoneum ridges Abnormal iris pigmentation Subaortic stenosis Triangular epiphysis of the middle Hypoplastic nasal bridge Duplicated collecting system Abnormality of eosinophils Paresis of extensor muscles of the Aplasia/HypoplasiaAbnormal of metaphysealthe capitalAbnormality trabeculation of the distal tibial AbnormalityMedial deviation of the foot of the foot PesHepatocellular cavus adenoma RetroperitonealShortening of fibrosisthe tibia Pruritus Static ophthalmoparesis Generalized seizures Iris pigment dispersion Onychauxis Toenail dysplasia Ridged nail phalanx ofFragmentation the 4th toe of the epiphysis of Dysharmonic accelerated bone age Metaphyseal chondromatosis of Metaphyseal irregularityMulticentric ossification of proximal Abnormal morphology of bones of Retrograde ejaculation phalanx of the 4th toe Abnormality of the Dysharmonicnasal bridge delayed bone age Progressive cone degeneration big toe femoral epiphysis Desmoid tumors Valgus foot deformity Aplasia of the femoral head Hyperextensibility at wrists Autoimmune thrombocytopenia Anterior segment of eye aplasia Urogenital sinus anomaly Abnormality of the nose epiphysis femoral epiphyses Testicular teratoma UnilateralPectoralis ptosis hypoplasia the lower limbs Lateral femoral bowing Impaired stimulus-induced skin Deep-set nails Triangular epiphysis of thethe middledistal phalanx of the 4th toe Stippling of the epiphyses of the 4th femur Sclerosis of foot bone RudimentaryFemoral bowing to absent tibiae Elevated alkaline phosphatase Abnormality of skin physiology Pseudoepiphyses of the 4th toe Mixed sclerosisLarge radial of humeral epiphyses Congenital bilateral ptosis Congenital foot contractures Allergy Proximal tibial hypopolasia wrinkling Occipital myelomeningocele Hypermobility of distal phalanx of the 4th toeSmall epiphysis of theFragmentation middle of the epiphysis of toe Anteriorly displaced urethral meatus Dislocation of the femoral head Lower limb peromelia Osteolytic defects of the 1st Hypoplastic cervical vertebrae Aniridia Congenital onychodystrophy Right aortic arch with Irregular epiphyses of the 4th toe metaphyses Sacral lipoma Abnormality ofCongenital the ovary ptosis Hip Subluxation Hepatocellular carcinoma Abnormal tarsal ossification Peritoneal abscess Fusion of the left and right thalami phalanx of the 4th toe Intermittent hypothermia Recurrent pneumonia ScleroticRecurrent humeral upper and metaphysis lower with Splayed epiphysesAbnormality of fibular epiphyses Metaphyseal dysostosis Female hypogonadismShort tibia Fibular aplasia Radially deviated wrists Abnormal male reproductive systemJoint hypermobility interphalangeal joints Abnormal ejaculationC2-C3 subluxation Fingernail dysplasia Nail dysplasia retroesophageal diverticulum of Abnormality of thethe epiphysis proximal of phalanx the of the 4th toe Hypoplastic male external genitalia Female external genitalia in Accelerated skeletal maturation Honeycomb retinal degeneration NephrogenicUrinary diabetes tract insipidus atresia Abnormality of the vagina Streaky metaphyseal sclerosisAbnormality of the bronchi Testicular seminoma Ivory epiphyses of the metacarpals Seasonal allergymetacarpal Elevated intestinal alkaline Hyperextensibility at elbow Premature ejaculation Bracket epiphysis of the proximal Ivory epiphyses of the 4th toe Hypocalciuria respiratory tract infections Dense metaphyseal bands Metatarsal diaphyseal endosteal Peritonitis Increased intraocularphysiology pressure Ligamentous laxity Narrow nail Kommerell distal phalanx of the 4th toe individual with 46,XY karyotype Dysautonomia Abnormality of the lower urinary tract longitudinal striations BilateralAtypical ptosis neurofibromatosis Neoplasm of the liver phosphatase Hypermobility of interphalangeal Abnormal middle ear reflexes Chronic lymphatic leukemia Cone-shapedphalanx of epiphysisthe 4th toeAbnormality of the distal of the Enlargedepiphysis epiphysis of the ofLeukemia the distal Flattened, squared-off epiphyses of Split foot Low alkaline phosphataseDelayed tarsal ossification Joint laxity Cone-shaped epiphysis of the EnlargedDistal pituitaryReduced urethral gland duplicationratio ofAbnormality renal calcium of the urethra Lattice retinal degeneration Hyposmia Wide epiphyses of the upper limbsAbnormality of the trachea Spinal neurofibromas sclerosis Achilles tendonAdductor contracture longusFlared contractures metaphysis CervicalAbnormality segmentation of the tibial defect plateaux Abnormal subcutaneous fat tissue Increased laxity of fingers joints Hashimoto thyroiditis Abnormality of the toenails Congenital ichthyosiform Right aortic arch with Vascular ring Lymphoid leukemiaphalanx of the 4thproximal toe phalanx of theEnlargedphalanx 4thEnlarged toe ofepiphysis the epiphysis 4th toeof the of middle the proximal Absent nasal bridge Malignant genitourinarytubular tract bones tumor Spinal Aplasia/Hypoplasia involvingScapular the muscle atrophy Irregular tarsal ossification Aplasia/HypoplasiaCongenital neuroblastomaaffecting the Enhancement of the C-reflex Myocardial fibrosis Fused nails Congenital blindness Chronic leukemia middle phalanx of the 4th toe clearance to creatinine clearance Maternal diabetes Multiple myeloma RecurrentRecurrent pharyngitis bronchitis Decreased cervical spine flexion due Elevated placental alkaline Hypergonadotropic hypogonadism Absent vertebrae Absence seizures Retarded ejaculation Thick nail erythroderma Bracket epiphysis of the distalAbnormality of the epiphysis ofphalanx the phalanx of the of4th the toe 4th toe Epiphyseal deformities of tubular Abnormality of lower limb epiphysis Abnormality of the tibial metaphysis distribution anterior segment of the eye Mesocardia Slow decrease in visual acuity retroesophageal left subclavian Left aortic arch with cervical origin Bracket epiphysis of the middle Irregular radial epiphysesSmall radial epiphyses Distal lower limb amyotrophyRenal hamartoma musculature of the upper limbs Fibular duplication Spinalarachnoid cyst phosphatase Asymmetry of intraocular pressure Double aortic arch phalanx of theCone-shaped 4th toe epiphysis of the Abnormal prolactin level Large humeral epiphyses morphology to contractures of posterior cervical Tibiofibular diastasisShort femur Increased facial adipose tissue Bouchard's node Neuroblastoma GeneralizedRidged ichthyosis fingernail artery of the right subclavian artery middle phalanx of the 4th toe Narrow nasal bridge Hypertrophy of the urinary bladder Pituitary hypothyroidism bones Delayed proximal femoral Distal amyotrophy Distal femoral bowing Abnormality of the peritoneumMetacarpal synostosisDuplication of hand bones Generalized joint laxity Atypical absence seizures Abnormality of the anterior segment Dystrophic toenail Split nail phalanxproximal of the 4th phalanx toe of the 4th toe Prolactin deficiency Delayed skeletalDysharmonic maturation bone ageDiffuse retinal cone degenerationMultiple bladder diverticula Hypoplasia of the capitalVaginalDelayed femoral neoplasm phalangeal epiphysealAbnormal metaphyseal vascular Widened proximalAbnormalitymuscles tibial of metaphyses vertebral epiphysis Abnormality of lower limbSynovial bone sarcoma Aplasia/Hypoplasia of the fibula Abnormal sacral segmentation Abnormality of the fingernails Amaurosis fugax Pseudoepiphysis of the distal Abnormality ofMetastatic the mesentery angiosarcomaAbnormality of subcutaneous fat Positional foot deformity of the eye Midshaft hypospadias Depressed nasal bridge Abnormality of urine calcium Hypoplastic distal radial epiphyses Abnormality of the distal fibular ossification invasion epiphyseal ossificationGonadal neoplasm Occasional neurofibromas LipomatousHypoplasiamorphology tumor of the musculatureFibrosarcoma Fibular hypoplasia Decreased fertility in females Prolonged somatosensory evoked Refractory anemia Left aortic arch with Chronic myelogenous leukemia phalanx of Irregularthe 4th toe epiphysis of the distal Tapetoretinal degeneration Malignant eosinophil proliferation Bladder exstrophy epiphysis Epiphyseal stippling of the SymptomaticPectoral seizuresDumbbell-shaped muscle hypoplasia/aplasia femur Prominent fingertip pads Aplasia/Hypoplasia of the iris Myocardial necrosis Left aortic arch with Stippling of the epiphysis of the concentration Myelodysplasia Migraineepiphysis Testicular gonadoblastoma Contractures of the large joints DistalAnaphylactic upperAbnormality limb shock amyotrophy of the musculature of Abnormality Broadof the abdomentibial metaphysesAngiosarcoma tissue SynostosisAbnormality involving the of 5th thalamus morphology Heberden's node Abnormality of peripheral Progressive visual loss retroesophageal diverticulum of phalanx of the 4th toe Abnormality of male external Retinal degeneration Absent ossification of capital Abnormality of lower-limbLipedema Duplication of internal organs potentials Progressive central visual loss Right aortic arch with mirror image retroesophageal right subclavian T-cell chronic lymphocytic Irregular epiphysis distalof the phalanx proximalIvory of epiphysis the 4th toe of the proximal Wide nasal bridge Heat intolerance Dumbbell-shapedNeoplasm metaphyses of the genitourinary tract metacarpals the upper arm Flexion limitation of toes Increased subcutaneousRudimentary truncal fibula Yellow subcutaneousmetacarpal tissue covered Amyolid cardiomyopathy somatosensory evoked potentials Onycholysis of distal fingernails Right aortic arch Ivory epiphysis of the distal phalanx genitalia Hypothermia Dysplastic distal radial epiphyses Diabetes insipidus Benign genitourinary tract neoplasm femoral epiphysis metaphyses Large for gestationalHypogonadism age Osteoarthritis of the distal DecreasedEnlarged fertility proximal in males interphalangeal Male branching Kommerell lymphoma/leukemia phalanx of the 4th toe Urinary bladder inflammation Broad radial epiphyseal plate Early ossification of capital femoral Vertebral segmentation defect adipose tissue Disproportionate shortening of the OccipitalFinger meningocele joint hypermobility Giant somatosensory evoked artery Pseudoepiphysis of the middlephalanx of the of4th the toe 4th toe Recurrent upper respiratory tract Genital hernia Congenital mesoblastic nephromaNeoplasmContractures of fatty of the tissue joints of the by thin, scaly skin Finger joint hyperextensibilityinterphalangeal joint joints Dystrophic fingernails Onycholysis of fingernails Blindness Pseudoepiphysis of the proximalIvory epiphysis of the middle Insulin-dependent but Multiple mitochondrial DNA deletionsAbsent proximal radial epiphyses Abnormality of limb epiphysis Proximal upper limb amyotrophy Synostosis involving bones of the Proximal fibular overgrowth tibia Synostosis involving the 4th Enlarged interphalangeal joints Thin toenail potentials Localized epidermolytic phalanx of the 4th toe Acute aspiration pneumonia Hypercalciuria Distal radial epiphyseal osteolysis infections Intracranial epiphysesmeningioma Neurofibromas lower limbsAbnormality of the hip joint Alveolar soft part sarcomaHypoplasia of proximal fibula Abnormality of abdominal situs Obtundation status Infertility Ependymoblastoma Abnormality of the left ventricular phalanx of the 4th toe phalanx of the 4th toe Adrenocorticotropicketosis-resistant hormone diabetes Bladder diverticulum Hematological neoplasm Small epiphyses of the upper limbs Diffuse white matter abnormalitiesmorphology Metatarsal periosteal thickening Schmorl's node metacarpal HypogonadotrophicOphthalmoparesis hypogonadism Setting-sun eye phenomenon Onycholysis of toenailsAbnormality of central hyperkeratosis Transient erythroblastopenia Hemianopsia Stippling of the epiphysis of the Penile hypospadiasMale pseudohermaphroditism Impaired thermal sensitivity Metaphyseal rarefaction Ovarian neoplasm Avascular necrosis of the capital lowerThickened limbs Achilles tendon Synostosis involving the 3rd Hemisacrum (S2-S5) Hyperkeratosis lenticularis perstans Myocarditis outflow tract Right aortic arch with left Left aortic arch with right Irregular epiphysis of the middle deficiency Abnormality of the Flattened epiphysis Increased fibularAplasia/hypoplasia diameter involving bones Teratoma Liver abscess somatosensory evoked potentials Anemia Decreased central vision Cervical aortic arch Malignant hyperthermia Acute bronchitis femoral epiphysis Ptosis AmyotrophyBroad of metacarpals ankle musculature Synostosis involving the 2ndCongenital extraocular muscle descending aorta and right ductus Interrupted aortic arch type A phalanx of the 4th proximaltoe phalanx of the 4th toeSingle coronary artery origin Abnormal length ofProgressive corpus callosum flexionAbnormal contractures ossification involvingAplasia/Hypoplasia the of the of the lower limbs Primary gonadal insufficiency Vertebral compression fractures metacarpal Fused fourth and fifth metacarpals Osteoarthritis of the first Hypoplastic sacrum Fragile nails Nonprogressive visual loss descending aorta and left ductus Renal calcium wasting Single lineage myelodysplasia Lower extremity joint dislocation Synostosis involving the fibula Increased body weight Nail dystrophy Amblyopia Visual loss Incomplete male Abnormal oral glucose tolerance ScleroticElevated humeral alkaline metaphysis phosphatase of Irregular humeral epiphyses musculature of the thigh Abnormality of the fibula Serpentine fibula Bethlem sign metacarpal anomaly carpometacarpal joint Thin fingernail arteriosus arteriosus Abnormal branching pattern of the Interrupted aortic arch type B Stippling of the epiphysis of the Impaired renal concentrating ability Temperature instabilityBilineage myelodysplasia Laterally sloping humeral metaphysis Congenital bilateral hipDelayed dislocation epiphysealLipoma ossification of corpus callosum femoral Calfhead muscle and neck hypoplasia Germinoma Abnormality of the tibia Neurofibrosarcoma Abnormality of the os naviculare Dupuytren contracture Streaks of hyperkeratosis along Decreased fertility Ingrown nail pseudohermaphroditism GonadotropinUrethral diverticulum deficiency Plasmacytoma Incisional hernia renal origin EnlargedThick metaphyses corpus callosum Dumbbell-shaped humerus Fibular overgrowth Superior rectus atrophy Epilepsia partialis continua Pyramidal skinfold extending from Abnormality of the Abnormalmyocardium anatomic location of the aortic arch Medially sloping radial epiphyses Lower limb amyotrophyAbnormality of the metaphyses Aplasia/Hypoplasia involving the Hip contracture Allergic conjunctivitis each finger onto theGeneralized palm hyperkeratosis Thin nail middle phalanx of the 4th toe Low alkaline phosphatase of renal Hernia TibialAbnormality torsionAbsent of the ray spinal dura mater Hepatoblastoma Abnormality of facial adipose tissuepedis Onycholysis Postnatal-onset ichthyosiform Hypospadias Small pituitary glandAbnormal size of pituitary gland Umbilical hernia Spurred humeral metaphysis Proximal lower limb amyotrophyHip dislocation shoulder musculature Sclerosis of hand bone Abnormal intraocular pressure Cervical spondylosisCervical spine instability the base to the top of the nails heart BlurredHemianopic vision blurring of vision Urethral obstruction Aspiration pneumonia Transient neonatal diabetes mellitus Multiple lineage myelodysplasia Mitochondrial myopathy origin Metaphyseal widening Abnormality of the pia mater Hamstring contracturesToe extensor amyotrophySynostosis of carpals/tarsals Hypoplastic pelvis Perifollicular hyperkeratosis Cervical subluxation erythroderma Left aortic arch with isolated Eosinophilia Aplasia/Hypoplasia involvingDysgerminoma the Abnormality of dorsoventral Dural ectasia Synostosis involving bones of the Nail bed hemorrhage Insulin-resistant diabetes mellitus at Premature fusion of the radial Absent knee epiphyses Lipoma Fractured hand bones Myelomeningocele Neuroblastic tumors Cervical spine hypermobility Cervical vertebral facet hypoplasia Left ventricular septal hypertrophy subclavian artery Dilatation of the bladder Pituitary calcification Impaired gluconeogenesis Irregular epiphyses of the elbow Multicentricskeletal femoral musculature head patterningAmyotrophy of the Abnormallimbs involving foot thebone shoulder ossification Joint contracture of thehand hand Refractory anemia with ringed puberty Anterior hypopituitarism Type I diabetes mellitus epiphyseal plates Chronic bronchitis BroadDysplastic humeral corpusepiphyses callosum Embryonal rhabdomyosarcoma Cervical vertebralCentral agenesis primitive neuroectodermal Chronic monilial nail infection Abnormality of the ventricular Severe visual impairment Common origin of the right Abnormality of skeletal maturation Abnormality of the distal radial Stippled calcification of humeral Immunologic hypersensitivity musculature Embryonal neoplasm Peripheral primitive Interrupted aortic arch type C Viral infection-inducedsideroblasts PanhypopituitarismFetal megacystis Flattened humeral epiphyses ossification Germ cell neoplasia Alveolar rhabdomyosarcomaTibial bowing Visual impairment brachiocephalic artery and left Neonatal insulin-dependent epiphysis Flattened radial epiphyses Sloping humeral metaphysis metaphysis Extramedullary hematopoiesis Abnormality of the abdominal organs ChoriocarcinomaAplasia/HypoplasiaAcromelia involving of the lower the limbs Sacral segmentation defect Subungual hyperkeratosis neuroectodermal neoplasm tumor Abnormality of somatosensory septum Enlarged flash visual evoked Decreased glomerularAbnormal filtration Recurrentorigin of rate the aspiration coronary pneumonia Omphalocele Depletion of mitochondrial DNA in Abnormality of the falx cerebri Dumbbell-shaped long bone AbnormalityLentigo maligna of the calfmelanoma Sarcoma Osteoporotic tarsals TalipesMedulloepithelioma Yellow nails Double outlet left ventricle Mildly reduced visual acuity common carotid artery Glandular hypospadias rhabdomyolysis Tension-type headache Midline central nervous system Abnormality of the dura mater Increased length of the tibia Ewing's sarcoma pelvis Osteoarthritis of the small joints of Recurrent loss of toenails and evoked potentials potentials Alcohol-induced rhabdomyolysis diabetes mellitus Pneumonia Periventricular leukomalacia Abnormal glucose tolerance muscle tissue Subcortical white matter Genital neoplasm Palmar neurofibromas Ovarian fibroma Aplasia involving bones of the AbnormalityDecreased of hand serum joint Meningocele mobilityestradiol Metacarpophalangeal joint Aplasia/Hypoplasia of the vertebrae Vestibular nystagmus Talipes equinovalgus arteries Glucose intolerance Constricted radial neck Fasciitis lipomas Intestinal lymphedema Aplasia of metacarpalGout (feet) bones LargeAbsent joint dislocations extraocular muscles Infantile spasms Abnormality of the subungual region Abdominal situs inversus Ichthyosis Aplasia/Hypoplasia of the bladder Microalbuminuria Maturity-onset diabetesInsulin of theresistance young Bronchitis Cerebral white matter atrophy Small humeral epiphyses Abnormal epiphysealCalf ossification muscle pseudohypertrophy extremities Decreased serum progesterone contracture Bifid sacrum the handPunctate palmar and solar Cervical vertebral dysplasia fingernails Interrupted aortic arch Nasofrontal encephalocele Medially deficient radialHeadache epiphyses (with pheochromocytoma) calcifications Neoplasm of the trachea Metaphyseal spurs Fibular bowing Painful subcutaneous lipomas Nervous tissue neoplasm C1-C2 subluxation Abnormality of nail color Restrictive ventricular septal defect Urethral sphincter sclerosis Renal Fanconi syndrome Orthostatic tachycardia Type II diabetes mellitus Generalized amyotrophyEpiphyseal stipplingOvarian papillary adenocarcinomaMeningioma Subperiosteal erosionsFlexionCupped contractureduemetaphyses to of hand BroadbonesSynostosis long bones involving the tibia Scheuermann-likePeritoneal vertebral mesothelioma changes Absence of secondary sex Carpometacarpal synostosis hyperkeratosis Aplasia/Hypoplasia of the cervical Urethral stenosis Scrotal hypospadias Autonomic dysregulation Abnormality of temperature Sloping radial epiphyses Ventral hernia Enlarged humeral metaphyses Proximal amyotrophy Scapuloperoneal myopathy Proximal tibial and fibular fusion Short long bone Absent hand Congenital fibrosis of extraocular Alacrima Talipes calcaneovarus Talipes calcaneovalgus Cortical visual impairment Juxtaductal coarctation of the aorta Abnormal glomerular filtration rate Abnormality of calcium homeostasis FlattenedMedially proximal fused radial radial epiphyses epiphyseal Hypnic headacheProminent umbilicusExstrophy Abnormality of upper limb epiphysis QuadricepsAbnormality muscle of limb atrophy bone Subcutaneous lipoma Absence of pubertal development Choroidal Follicular hyperkeratosisStatus epilepticus Decreased cervical spine mobility Abnormal flash visual evokedImpaired left ventricular function Inlet ventricular Congenitalseptal defect visual impairment Anesthetic-induced rhabdomylosisAbnormality of cation homeostasis regulationMedially flattened radial epiphyses Inguinal hernia Generalized limb muscle atrophy secondary hyperparathyroidism Increased adipose tissueOsteolysis involving bones of the Ulnar claw Leydig cellcharacteristics insensitivity to Androgen insufficiency muscles spine Acute rhabdomyolysisHypoplasia of the bladder Impaired Ig class switch plates Metaphyseal cupping of proximalAbnormality of radial epiphyses Prunemorphology bellyCongenital hip dislocation morphologyMultipleAbnormality lipomas of the Achilles tendon Spinal meningeal diverticulumAplasia of the 4th metacarpal Linear arrays of macular Abnormality of the nail Urethral valve Increased glomerular filtration rate Exercise-induced rhabdomyolysis Absent specific antibody response Long fibula lower limbs Talipes equinovarus potentials Penoscrotal hypospadias recombination Insulin-resistant diabetes mellitus Calcaneal epiphyseal stippling Testicular mesothelioma MorbusEctrodactyly Osgood-Schlatter gonadotropin Hydropic placenta Pilonidal fistula Pterygium formation (nails) Absence of visual evoked potentials Ventricular septal defect Impaired memoryAbnormality B-cell generation of the pituitary gland phalanges Abnormality of the umbilicus LowerAbnormal limb phocomelia periosteum morphology Externally rotated hips Abnormality of alkaline phosphataseMultiple joint dislocation hyperkeratoses in flexural Primitiveareas neuroectodermal tumor Iris hypopigmentation Abnormality of the kidney Cluster headache Hernia of the abdominal wall Abnormality of the genitourinary Abnormality of blood and Metacarpal periostealMetacarpal thickening osteolysis Abnormality of Abnormal placental size Subungual hyperkeratotic fragments Enlarged sagittal diameter of the Prolonged brainstem auditory Permanent atrial fibrillation Wolff-Parkinson-White syndrome Abnormality of renal resorptionChronic lymphocytic meningitis Aplasia/Hypoplasia involving the Neuroendocrine neoplasm Adrenogenital syndromeactivity Neuroectodermal neoplasm Cervical vertebral bodies with Shallow orbitsSlow-growing nails Congenital talipes calcaneovalgus Gerbode ventricular septal defect Postductal coarctation of the aorta Urethral stricture Coronal hypospadias Abnormal autonomic nervous Abnormality of the autonomic Eosinophilic fasciitis FlattenedDelayed knee elbow epiphyses epiphyseal Abnormality of the musculature of IncreasedKnee dislocation connective tissue Enthesitis Chorangioma Hip dysplasia metacarpophalangeal joint Generalized osteoporosis with Complex febrile seizures Epidermal hyperkeratosis evoked potentials Abnormality of the corpus callosumsystem Flared humeral metaphysis blood-forming tissues Morbus Scheuermann Abnormality of the hand Vertebral body sclerosis Presacral teratoma decreased anteroposterior diametercervical canal Dextrocardia Abnormality of the left ventricle Increased renal tubular phosphate system physiology Priapism nervous system Abnormality of the fascia Upper limb amyotrophythe musculaturethigh of the extremities AbnormalityIncreased of lower limbintraabdominal joint Tarsal fat stippling Sirenomelia Split hand Sclerotic foci within carpal bones Synostosis of secondLimited interphalangealpathologic movement fractures Small placenta Abnormality of the cervicalC1-C2 spine vertebral abnormality Systemic lupus erythematosus Subarterial ventricular septal defect Nephropathy Abnormal renal physiology CorticalDelayed subperiosteal upper limb resorption epiphyseal ossification Abnormality of the endocrineAbnormal system vertebral segmentation Frontal cutaneous lipoma Duplication of bones involvingRadial the club hand Leukonychia Congenital posterior urethral valve reabsorption Abnormal sudomotor regulation Abnormality of B cell physiology Abnormal glucose homeostasis Abnormality of the foot musculatureLimb joint contracture Joint dislocation Large placenta Autoimmunity Abnormal lower-limb motor evoked Abetalipoproteinemia Polymicrogyria,Frontoparietal anterior to posterior polymicrogyria Pulmonary lymphoma Abnormality of the proximal(humeral radial metaphyses)ossification Lipomas of the centraland neryous fusion Aplasia/Hypoplasia of the pubicBowing of the legs Abnormality of the metacarpalupper extremities bones Subungual fibromas metacarpal-trapezoidCraniopharyngioma HyperkeratosisDecreased lacrimation with erythema Widening of cervical spinal canal Reduced amplitude of patternTalipes visual cavus equinovarus Multiple muscular ventricular septal Preductal coarctation of the aorta BronchialNeonatal neoplasm epiphyseal stippling Ovarian gonadoblastoma Aplastic pubic bones SynostosisRhabdomyosarcoma of joints Abnormality of the vertebrae Abnormality of peripheral nervous Bilateral talipes equinovarus Paroxysmal atrial fibrillation gradient Perineal hypospadias Defective B cell activation Metaphyseal cuppingepiphysis Abnormality of the calf musculature Knee flexion contracture Ankle contracture Placental abruption evoked potentials potentials Muscular ventricular septal defect defectsType III truncus arteriosus Hypobetalipoproteinemia Impaired reabsorption of chloride Rhabdomyolysis Severe failure to thrive Maternal hyperphenylalaninemiaDiabetes mellitus Increased testosterone Round epiphyses of the upper limbs system Crumpled long bones bone Fibrous tissue neoplasmPuberty and gonadal disorders Immune dysregulation Placental infarction system electrophysiology Congenital hypertrophy of left Perimembranous ventricular septal Type II lissencephaly AbnormalityDefective of divalent B cell differentiationinorganic Hypercalcemia AbnormalitySolitary of the urachusbladder diverticulum Pointed humeral metaphysis Epiphyseal stipplingEpiphyseal of the humerus dysplasia Morbus Koehler NeurocytomaMetacarpophalangeal joint Hyperparakeratosis Melanonychia Abnormal upper-limb motor evoked Pseudocoarctation of the aorta Postural hypotensionVentricular with preexcitation with Hemolytic-uremic syndrome Ethmoidal encephalocele Abnormality of the nasal mucosa Lytic defects of the humeral TrachealAbnormal atresia morphology Cardiac teratoma Aplasia/Hypoplasia involving the Abnormality of theAbnormality 5th metacarpal of the extraocular Hyperkeratosis Iris cyst ventricle Non-restrictive ventriculardefect septal cation homeostasis Meningitis Cloacal exstrophy Scapuloperoneal amyotrophy Short diaphyses Wind-sweptAbnormality deformity of the of themusculature knees of AbnormalityFibroma of thePeripheral spinal nerve compression hyperextensibilityPubertalLevator developmental palpebrae failure superioris in atrophy Iridodonesis Abnormality of vision evoked potentials multiple accessory pathwaysNephrotic syndrome Subsarcolemmal accumulationsHypothalamic ofhypothyroidism metaphysis Late-onset distal muscle weakness Ankylosis of feet small jointsmetacarpalAplasia/Hypoplasia bones of the 5th muscles Iris nevus Situs inversus totalis compensatory tachycardia Megacystis Hyperinsulinemic hypoglycemia Vaginal atresia Insulin insensitivity Abnormality of the nasopharynx Abnormality of the abdominal wall Flared upper limb metaphysis the upper limbs Distal tibial bowing Cerebellar medulloblastomaNeoplasm of thefemales nail Simple febrile seizures potentials defect Type II truncus arteriosus EEG with periodic complexes Steroid-resistantMultidrug-resistant nephrotic syndrome nephrotic abnormally shapedOccipital mitochondria neuralgia Nonprogressive muscular atrophy ProgressiveAbnormality distal muscleof the medullary weakness cavity AmeliaAmniotic involvingAbnormality constriction theAmniotic lowerof joint rings constrictionlimbs mobility of legs ring Osteoporosis of vertebraeAbnormality of the placenta Abnormal eye Calcifiedphysiology placenta Spina bifida occulta Apical muscular ventricular septal Coarctation of the descending aorticDecreased mitochondrialType number III lissencephaly Unilateral polymicrogyria Segmental spinal muscular atrophy Normal-densityPelvic transverse girdle amyotrophy bands Spurred metaphyses of the upper Protuberances at ends of long bones Acute sinusitis Aplasia/hypoplasia involving bones metacarpal Ciliary body melanoma syndrome Bronchiolitis Abnormality of the urinary system Sclerotic radial epiphyses Limb duplicationCongenital knee dislocation Genuof the valgum long bones Neoplasm by histologyAbnormal tarsal bone mineral density Thyroid lymphangiectasia Abnormality of pattern reversal defect arch Urethral atresia, male Isothenuria Decreased activity(humerus) of cytochrome Skeletal C muscle atrophy Restricted neck movement due to Stenosis of the medullary cavity of of the hand Fructose intolerance Sacrococcygeal pilonidal physiology limbs Multiple cutaneous malignancies Externally rotated/abductedCutaneous melanoma legs Aplasia/HypoplasiaAbnormality of theimmuneMelanomaAbnormality 4th system of the 2nd metacarpal Digital constriction ring Bilateral microphthalmos visual evoked potentials Left ventricular hypertrophy oxidase inAbnormality muscle tissue of the humeral Abnormal testosterone level contractures Abnormalities of the metaphyses of Chylous ascites Uterine leiomyomaSepsis Decreased glucosephosphate abnormality Iris atrophy Albuminuria Abnormality of the sense of smell Abnormality of the tracheobronchial Cerebral germinoma Distalthe upperlong bones limb muscle weaknessAnterior tibial bowing Peromelia physiology Febrile seizuresSevere osteoporosis Postlingual sensorineural hearing True anophthalmia Transient nephrotic syndrome Infantile hypercalcemia Absent rod-and cone-mediated Calcification of falx metaphysescerebri Upper-limb metaphysealHypocalcemic irregularity seizures Flared metaphyses (elbow) Nodular melanoma metacarpal isomerase activity Cervical spina bifida Hypoplastic aortic arch Abnormality of the aortic arch AbnormalityPunctate of the periventricularperiventricular T2 Abnormality of the humeralAbnormality system of the humeral epiphysis Abnormality of the meningesthe hand Genu varum Decreased hip abduction impairmentHypoplasiaPilonidal ofsinus the ciliaryIritis body Parakeratosis Spina bifida occulta at L5 Type IV truncus arteriosus Atrial fibrillation Focal lissencephalyPerisylvian polymicrogyria Decreased testosterone in males HeadacheMuscle abnormalityWide related epiphyseal to platesAdvanced of the upper ossification of the Abnormality of Sharpey fibers Abnormality of the 4th metacarpal Hypertelorism Hypolipoproteinemia Orthostatic hypotension due to responses on ERG whitehyperintense matter foci Metaphyseal cupping of metacarpals Hypoplasticepiphyseal inferior plate pubic rami RecurrentMetaphyseal sinusitis dysplasia First dorsal interossei muscle Chronic sinusitis Tibial pseudoarthrosis Aplasia of the 2nd metacarpalHepaticAcute abscesses otitis media dueGeneralized to bone demineralization Abnormality of the iris Chronic irritative conjunctivitis Absent/hypoplastic coccyx Spina bifida occulta at S1 Absent brainstem auditory Congenital stationary night blindness Biventricular hypertrophy Hypoalphalipoproteinemia Increased mitochondrial number Polymicrogyria Congenital nephrotic syndrome Patent urachus Congenital muscular dystrophy FemoralAcute infantile hernia spinalmitochondrialDelayed muscular humeral dysfunction epiphysealCupped limbs metaphyses of the upperMulticentric ossification of proximal Cutaneous angiolipomas Ascites AbnormalityIntraocular of melanoma reproductiveEpileptic spasms system Abnormal auditory evoked potentials autonomic dysfunction Brain abscessCombined hyperlipidemia Abnormal concentration of calcium Abnormality of the Sternocleidomastoid amyotrophyhumeral epiphysisCongenital Irregular diaphragmatic ossification hernia of the humeral weaknessTracheal calcificationMultiple joint contractures Periosteal new bone (humeral) Amniotic constriction ringsHistiocytoma of arms immunodeficiencyAcromelia Proptosis responses Lissencephaly Ambiguous genitalia, male Abnormality of leukocytes Congenital Horner syndrome atrophy ossification Squarelimbs humeral metaphysishumeral epiphyses Parathyroid adenoma Chondrosarcoma Aplasia of the 5th metacarpalAplasia/HypoplasiaFifth metacarpal of with the ulnar 2nd notchGeneralized amyloid deposition Synovial hypertrophyphysiology Aplasia/Hypoplasia of the sacrum Hyperchylomicronemia in blood Tracheobronchial leiomyomatosis epiphyses Peroneal muscle weakness AbnormalityAbnormality of long bone of theFibrous lowerSuperficial limbhamartoma spreading melanoma Short humerus Unilateral microphthalmos Truncus arteriosus Agenesis of primary maxillary Urethral atresia Frontal encephalocele hypothalamus-pituitary axis Hypoplastic pubic bone Hamartoma metacarpalShort tubular bones (hand) Subluxation of metacarpalSynovitis Absence of the sacrum Right ventricular outlet obstruction Type I truncus arteriosus EEG with spike-wave complexes Type I lissencephaly FailureAcute to thriverespiratory in infancy tract infection Horner syndrome Hypothalamic hamartoma Limited neck flexion morphology Phocomelia Acral lentiginous melanoma Decreased finger mobility Paronychia Spina bifida Abnormality of the ciliary body Metamorphopsia Right ventricular hypertrophy central incisor Elevated 8-dehydrocholesterol Encephalitis Hyperinsulinemia Upper limb metaphyseal widening Neck muscle hypoplasia Anterior bowing of long bones Abnormality of the 3rd metacarpal phalangeal joints Intermediate uveitis Ventricular hypertrophy (2.5-3.5 Hz) Recurrent bacterial meningitis Late-onset muscular dystrophy Urachal cyst Round radial epiphyses Cloacal abnormality Gonadoblastoma HypoplasticWide ischia pubic symphysis Enlargement of the anklesOsteopetrosisAbnormality of the shoulder girdle Iris melanoma Agenesis of permanent maxillary Agenesis of permanent maxillary Acute infectious pneumonia Round humeral epiphyses Irregular ossification of humeral Parathyroid carcinoma PatchyCardiac changes fibromaCerebral of bone amyloid mineral angiopathy Short 5th metacarpal Circumungual hyperkeratosis Aplasia/Hypoplasia affecting the Abnormal motor evoked potentialsRight ventricular dilatation Leukocytosis Absent patellar reflexes DiffuseDistal leiomyomatosis lower limb muscleAbnormality weakness of connective tissue Cardiac myxoma musculature AbnormalOsteoporosis inflammatory response Lacrimal duct stenosis lateralAgenesis incisor of primary maxillary lateralcentral incisor EEG with polyspike wave complexes Hyperalphalipoproteinemia Abnormality of the level of Abnormality of magnesiumRecurrent meningitis Stippled calcification of the humeral metaphyses Patellardensity aplasia Dysplasia of secondPatchy lumbar variation vertebra in bone mineral Ungual fibroma Hypocholesterolemia Alveolar cell carcinoma Abnormality of upper limb Abnormal diaphysis morphology Steatocystoma multiplex Osteosarcoma Aplasia of the 3rd metacarpal Limited hip movement Osteolysis of scaphoids Spinocerebellar tract diseaseIncreased in lacrimation uvea EEG with periodic abnormalities Transient hyperlipidemia epiphyses Spinal muscular atrophy Meningeal calcification Flared radialPeripheral metaphysisLimited knee neuroepithelioma flexion/extension Increased laxity of ankles Juvenile aseptic necrosis Leiomyosarcoma Otitis media Lisch nodules Adult-onset night blindness incisor Atrial flutter lipoprotein cholesterol White matter neuronal heterotopia homeostasis Aplasia of the bladder Proximal spinal muscular atrophy Radial metaphyseal irregularity Limitedmetaphysis neck range of motion Distal muscle weakness Narrow foramen obturatorium Cellulitis Periostosis density Synostosis of carpal bones Anterior sacral meningocele Hemeralopia Night blindness EEG with spike-wave complexes Chaotic multifocal atrial tachycardia Abnormal mitochondrial number Hypercholesterolemia Anterior encephalocele Neoplasm of the nose Abnormality ofPatellar limb bone dislocation Palmoplantar pustulosis Moderate generalized lowerosteoporosis limbs Horizontal sacrum Iridoretinal coloboma EEG with spike-wave complexes Multifocal atrial tachycardia Cortical gyral simplification Macroscopic hematuria Anterior basalBasal encephalocele encephalocele Broad humeral epiphyseal plate Normal density transverse bands in Abnormality of the knees Foot dorsiflexor weakness Malignant neoplasm of the central Cutaneous amyloidosis Abnormal liver lobulation Childhood onset sensorineural Hypoplasia of right ventricle (<2.5 Hz) Hyperlipoproteinemia Coarctation of abdominal aorta Absence of the third cerebral Orthostatic hypotension Posterior leukoencephalopathy Abnormal rod and cone Respiratory tract infection Humeral metaphyseal irregularity Neoplasm of the tracheobronchial Abnormality of the diencephalon Periosteal thickeningCutaneous of long leiomyosarcoma tubular Cellulitis due to immunodeficiency Narrow pelvis Abnormality of the sacrum Dysplastic sacrum Episodic hemiplegiaSacral meningocele Fasting hyperinsulinemia HypoplasticUlnar metaphyseal ischiopubic ramiirregularity Abnormal vertebral ossification Tibialis muscle weaknessOvertubulated long bones nervous system Neuroepithelial neoplasm Acromelia of the upper limbs Short umbilical cordIncreased inflammatoryIncreased response serum pyruvate hearing impairment Microphthalmos Bilateral ductus arteriosus (>3.5 Hz) Hyperbetalipoproteinemia Elevated 8(9)-cholestenol ventricle Hyperlipidemia IncreasedLyticmetaphyses defects in metaphyses of thesystem upper of limbs the OsteolysisAplasia/Hypoplasia ofAbnormality patellaebones of peripheral of the patella nerves Oculomotor apraxia Short 4thArthralgia metacarpal of the hip Enlarged joints Generalized keratosisPorokeratosis follicularis Ventricular preexcitation Abnormality of B cellsAsymmetric ventricles electroretinograms Posterior fusion of lumbosacral Abnormality of the distalTracheal humeral stenosis Abnormality of the genital system Diaphyseal thickening Abnormality of the upper arm Superior-inferior ventricles without Agenesis of permanent mandibular Abnormality of the third ventricle Scapulohumeral muscular dystrophy Subependymal nodules Progressive spinal muscularPeroneal atrophy muscle atrophy upper limbs Small hand Upper limb peromelia Carpal synostosis Decreased mobility 3rd-5th fingers Abnormality of vision Myocardial steatosisLacrimal duct aplasia Abnormality of the right ventricle Congenitally correctedAortopulmonary transposition window Patent ductus arteriosus Abnormality of cholesterol Urachus fistula calcification Congenital intracerebral calcification phosphoribosylpyrophosphatevertebrae epiphysis Retinal astrocytic hamartomaEnlarged peripheral nerve Amelia Pelvic asymmetry Lacrimation abnormality Dialeptic seizures Increased axial globe length criss-cross atrioventricular valves central incisor Decreased circulating ACTH level Abnormality of the epiphyses of the Lung fibroma Patellar hypoplasia HepatomegalyAplasia/Hypoplasia of the 3rdLimited hip extension Spontaneous rupture of thePhthisis globe bulbi of the great arteries with ventricular Patent ductus arteriosus after Dilatation of the aortic arch Abnormal cholesterol homeostasis metabolism Colpocephaly CNS infection Bence Jones ProteinuriaFailure to thrive (PRPP) synthetase Abnormality of the pubic bone Short neck Oculomotor nerve palsy Infantile sensorineuralUnossified hearing sacrum Bilateral conductive hearing Progressive night blindness Right ventricular failure Abnormal mitochondrial shape Increased circulating ACTH level Hypertriglyceridemia Absence of bactericidal oxidative Abnormality of myeloid leukocytes Vertebral fusion Increased intramuscular fat MalignantCardiac mesotheliomarhabdomyoma Short metacarpal Aplasia/Hypoplasia affecting the eye Irido-fundal colobomaAnophthalmia Anterior uveitis Cor pulmonale Transposition of the great arteries premature birth Absence of CD8+ T cells Coarctation of aorta Bidirectional ventricular ectopy Increased serum serotonin Intracerebral periventricularDecreased electroretinogram (ERG) Calf muscle hypertrophy elbow Areflexia of lower limbs Neoplasm by anatomical site Uterine leiomyosarcomaUterine neoplasm metacarpal Endometrial carcinoma Posterior uveitis Acanthosis nigricans Congenitally corrected transposition septal defect Agenesis of primary mandibular EEG with irregular generalized spike MacrogyriaPachygyria Heterotopia Aqueductal stenosis 'respiratory burst' in phagocytes Meningoencephalocele Delayed ossificationAbnormality of vertebral of the musculatureLimited knee of extension Patchy reduction of bone mineral impairment impairment Nasolacrimal duct obstruction Abnormal spatial orientation of the with ventricular septal defectAtrial situs ambiguous IncreasedAutomatic circulating atrial tachycardia Hypotriglyceridemia calcifications amplitude Limited kneeMetacarpal flexion diaphyseal endosteal Aplasia/hypoplasiaOsteochondrosis involving dissecans bones Multiple smallStippled vertebral calcification fractures in carpal bones Hepatic periportal necrosis Prelingual sensorineural hearing of the great arteries and wave complexes Elevated 7-dehydrocholesterol Periventricular gray matter Gray matter heterotopias Hyperapobetalipoproteinemia Moderate proteinuria Cachexia Osteomyelitis or necrosis, distal, Abdominal wall defectepiphysis Generalized osteosclerosis Limitation of knee mobility densityCuboidal metacarpal DecreasedAbnormality inflammatory of response glycolysis Panuveitis cardiac segments central incisor Shoulder girdle muscle atrophy the lower limbs sclerosis Abnormalities of the diaphysesof the ofupper limbs Upper limb phocomelia Scleral Unilateral vestibular Schwannoma impairment Abnormality of cardiac ventricle Congenital malformation of the great very-low-density lipoprotein heterotopia Hypermagnesemia Cerebral ventricular adhesions Abnormality of circulating Cupped radial metaphyses Decreased/absent ankle reflexes Aseptic necrosis Abnormality of the anklesPeripheralAbnormal Schwannoma hand boneVisceromegaly ossification Abnormality of the synovia Narrow greater sacrosciatic notches Conjunctivitis Deeply set eye Patent ductus arteriosus after birth Agenesis of maxillary central incisor Atrial reentry tachycardia Vacuolated lymphocytes Polymorphic and polytopic Occipital encephalocele Limb-girdledue to sensorymuscular neuropathy dystrophy (feet)Cranium bifidum occultum Cerebral hamartomata the hand Hyphema Subconjunctival hemorrhage Decreased movement range in Partial fusion of carpals arteries EEG with spike-wave complexes cholesterol Aortic root dilatation Abnormality of lateral ventricle Hypolipidemia Nasal polyposis Limb-girdle muscle atrophy SpurredAbsent humeral ulnar metaphysis epiphyseal Neoplasm of striated muscle Neoplasm of the heartAmyloidosis SeizuresConjunctival amyloidosis Infra-orbital foldOrbitalCongenital cyst sensorineural hearing Hypotelorism Uveitis Agenesis of maxillary lateral incisor Low cholesterol esterification rates ventricular extrasystoles Microscopic hematuria Hematuria adrenocorticotropin level Muscular dystrophy Mild proteinuria HypoplasticAbnormality pubic of rami the proximal humeral Limitation ofBroad neck motionradialNeoplasm metaphysis of the parathyroid glandAnomaly of theCortical limb diaphyses thickening of long bone Abnormality of the hip bone Abnormality of the periungual region Cardiac diverticulum Transposition of the great arteries at term Villous hypertrophy of choroid plexus Upper limb pain High urinary gonadotropinsLytic Abnormalitydefects (primary of radial of urine metaphysis hormone levelEpistaxis ossification Wide ulnar metaphysis Bowing of the long bones Chronic otitis media interphalangeal joints Widening of the sacrosciatic notch impairment Lacrimal duct atresia Abnormal atrial arrangement Agenesis of permanent mandibular Decreased numberDecreased of CD8+ activity T cells of mitochondrial Increase in B cellIntimal number thickening in the coronary Abnormality of the choroid plexus Reduced amplitude of b-wave (ERG) Neoplasia of the nasopharynxFlattened Pointedmetacarpal ulnar heads metaphysis SlenderPapilloma long bones withOsteopathia narrow striata Hypertrophy of the lower limb Iris hypoperfusion Low-frequencyAbnormality sensorineural of the suspensory L-looping of the right ventricle Ventricular escape rhythms AbnormalityImpaired of lipid metabolism FSH and LH secretion Abolished electroretinogram (ERG) hypogonadism) epiphysisMetaphyseal chondrodysplasiaAbnormality of mast cells Sinusitisdiaphyses HamartomaAbnormality of the eye of humoral immunitySpinocerebellar tract degeneration Large eyes Cryptophthalmos Epidermal thickeningNongranulomatousMuscular uveitis cardiac diverticulum with intact ventricular septum lateral incisor Ascending aortic dissection Leukopenia Diffuse spongiform PersistentDistal humeral cloaca metaphyseal Multiple cutaneous leiomyomas diaphyses Abnormality of the ischium Rickets of the lower limbs Long second metacarpalAbnormality of placental membranes hearing impairmentligamentAdult ofonset lens sensorineural hearing Scleritis complex IV Torsade de pointes Abnormality of B cell number arteries Orbital Smallencephalocele for gestational age Proximal humeral metaphyseal Pleuropulmonary blastoma Triangular humerus NeoplasmAnomaly Chemodectomaof the skin of lower limb diaphyses Angiofibromas Schwannoma Fluctuating hepatomegaly Abnormal insertionConjunctival of umbilical hamartoma cordHip osteoarthritis Criss-cross atrioventricular valves Primary atrial arrhythmia Spontaneous coronary artery leukoencephalopathy Bilateral intracranial calcifications Sacralization of the fifth lumbar irregularity NeoplasmAbnormal of the humeralperipheral ossification nervousGenu recurvatum Wide humerus Broad radius Reduced bone mineral densityTetraamelia Impairment of fructose metabolism impairmentMixed hearing impairment Hypoplastic lacrimal duct Criss-cross atrioventricular valves Atrial situs inversus EEG with generalized polymorphic Defective lymphocyte apoptosis Abnormality of the cerebral ventricles Abnormality of phagocytes irregularity Abnormality of cellular immune Abnormal metacarpal morphology Broad ulna Abnormality of carbohydrate Abnormality of the umbilical cord Osteoarthritis Iris coloboma Episodic quadriplegia with superior-inferior ventricles Absence of CD4-positive, Decreased activity of mitochondrial Abnormal mitochondrial morphology Type 1 and type 2 AbnormalmuscleReduced fiber cortical lymphocyte gyration surface dissectionUnilateral vertebral artery hypoplasia Increased serum Insulin-like growth Scleroticvertebra radial metaphysis with Benign neoplasm of the central Abnormality of the upper limb Choroid hemorrhageNeoplasm of the eye Cryoglobulinemia Large pelvis Iris neovascularization Relatively short spine Cyclopia Progressive conductive hearing Malformed lacrimal ducts Abnormal stereopsis Agenesis of mandibular central epileptiform discharges Ascending aortic dilation Abnormal leukocyte count Abnormality of circulating hormone Corpus callosum atrophy Hypodysplasia of the corpus system Tapered metacarpals system Diaphyseal sclerosis Retroperitoneal chemodectomas Autoamputation (feet)Knee osteoarthritismetabolism/homeostasis Short 3rd metacarpal Premature osteoarthritis CD25-positive regulatory T cells complex III Dilatation of the ascending aorta Overriding aorta minicore regionsexpression of CD43 (sialophorin) factor 1 Abnormalitylongitudinal of muscle striations size nervous systemGastroschisis Recurrent patellar dislocation NeoplasmRhabdomyoma GiantSynostosis cell tumor involving of bone bones of the Weak extraocular muscles Amelia involving the upper limbs Osteopenia Infra-orbital crease Jerk-locked premyoclonus spikes incisor Decreased number of CD4+ T cells Choroid plexus cyst level callosum Sclerotic foci of metaphyses of the Persistent fetal circulation Aplasia/hypoplasia of the extremitiesOsteolysisContractures of the joints of the Abnormal liver parenchyma Bilateral vestibular SchwannomaAbnormality of the greater impairment Abnormality of binocular vision Transposition of the great arteries Right atrial isomerism Ventricular extrasystoles LymphocytosisCoronary artery fistula Nephrotic range proteinuria Weight loss Stippled calcification proximal Anterior vertebral fusion Delayed ossification of pubic rami Increased adipose tissue around thePeriosteal new bone (humeral Abnormality of pelvic girdle bone Chemosis Agenesis of primary mandibular Elevated circulating Renovascularcatecholamine hypertension Decreased electrooculogram (EOG) Sclerosis of Tubularmetaphyses metacarpalAbnormality ofelbow the bones of gastrointestinal Diaphyseal dysplasia Myxoid subcutaneous tumors upper limbs upper limbs Abnormality of the epiphysismorphology of the PartialLong umbilical fusion of cordproximal rowsacrosciatic of notch Prominent protruding coccyx Abnormality of the lacrimal duct Descending aortic dissection Aortic dissection Abnormality of circulating Low gonadotropins (secondary Cortical tubers Abnormal cone-mediatedhumeral epiphyses Abnormal electroretinogram VerrucaeDistal ulnar epiphysealThin stippling long bone diaphyses Bifid humerusneck Increased bonediaphysis) mineral density Fetal ascites Amyloidosis of peripheralIncreased nerves bone density with cystic Immunodeficiency morphology Unilateral conductive hearing IridocyclitisAbnormalAnomalous ventricular origin of filling right pulmonary Left atrial isomerism lateral incisor level FastingProgressive hypoglycemia leukoencephalopathy Paroxysmal vertigo Aplasia of the abdominal wall Hypocalcemia upper limbs Quadriceps muscle weaknessAbnormal pelvis bone ossificationHemorrhageAbnormal of appendicular the eye skeleton Accessory carpal bones carpal bones Late-onset spinocerebellar Abnormality of the uveaAplasia/Hypoplasia involving the Portal fibrosis Abnormal lymphocyte count AbnormalityBilateral of lymphocytes vertebral artery hypoplasia hypogonadism) electroretinogram CerebralAbnormality calcification of nucleobase Lung adenocarcinoma vasculature Lymphedema changes 5th metacarpal Ocular albinism Bitot spots of the conjunctiva Abnormality ofInflammatory globe location abnormality of the eye impairment artery from ascending aorta Decreased activity of mitochondrial Dilatation of the descending Aortic dilatation Hypomagnesemia catecholamine level musculature Absent Achilles reflex Abnormal ossificationTapered of the humeruspubic Retinal neoplasm AbnormalAbnormality arm span of the eye degeneration Abnormality of the globe vertebral column Hemiplegia Prominent coccyx Single ventricle of indeterminate Abnormal CD4-positive, T lymphocytopenia Abnormality ofAortic transition arch element calcification Abnormality of neuronal migration Heavy proteinuria Hypothalamic Encephalocele metabolism Block vertebrae Broad long bone diaphysesIncreasedDiaphyseal density of corticallongHyperextensibility boneDeformed sclerosis humerus of the knee morphology Pseudoarthrosis Hepatic necrosis AspartylglucosaminuriaAbnormality of the vestibulocochlear ConductiveHypoplastic hearing spinal impairment processes Elevated CD4-positive, ATP synthase complex thoracic aorta External genital hypoplasia Proteinuria Lower Hypernatremiclimb pain dehydrationDiffuse cerebral calcification Abnormality of radial metaphyses Abnormality of the epiphysis of the Halberd-shaped pelvis SquareAbnormal pelvis eye morphology Abnormality of central nervous morphology Agenesis of mandibular lateral CD25-positive, alpha-beta Decreased activity of mitochondrialSevere T lymphocytopenia cation homeostasis Abnormality of the renal collecting Leukoencephalopathy Frayed humeral metaphyses Decreased patellar reflex bone ProximalProximal Talipesmuscle muscle weaknessvalgus weaknessHemihypertrophy in in lower upper of lower limb Dysharmonic maturation of the handAbnormalities of the cortex of hand Degenerative liver disease nerve Fibrous cardiac diverticulum CD25-positive regulatory T cell Dissecting aortic aneurysm Absent vestibular function gonadotropin-releasing hormone Sclerosis with transverse striations Neoplasm of the pharynx Expanded metacarpals with diaphyses Prominent digit pad Sclerosis of humeral diaphysis Glyoxalase deficiency Easily subluxated first Urinary excretion of sialylated system electrophysiology Agenesis of maxillary incisor incisor EEG with generalized sharp slow complex II Sinus of Valsalva aneurysm MinicorePlasmacytosis (multicore) myopathy Abnormality of circulating leptin level Elevated circulating parathyroid Hypothalamic luteinizing AbnormalityPulmonary of paragliomaulnarAbnormality metaphysis of the elbow limbsAreflexia of upper limbs bones Deficient ossification bonesof hand bones Hyperkeratosis over edematous 2nd metacarpal count regulatory T cell count Inflammatory myopathy Progressive ventriculomegaly Lymphopenia system Vestibular hypofunction (GNRH) deficiency Parietal encephalocele in metaphyses of the upper limbs Spurred radial metaphysis widened medullary cavities limbs Ankle swellingChondrocalcinosisPlantar hyperkeratosisHepatic amyloidosis Vestibular Schwannoma CirculatingAbnormal immune iris complexes vasculature Partial cellular immunodeficiency High-frequency sensorineural Caudal appendage Severe conductive hearing EEG with generalized polyspikeswaves Aortic tortuosity hormone (PTH) level hormone-releasingAbnormal hypothalamus hormone physiology Fused thoracic vertebrae Partial agenesisGeneralized ofDistal the weakness corpus widening of of limb metacarpals Abnormalitymetaphyses of female internal Rickets Aplasia/hypoplasiaAdvanced ossification of the of thehumerus hand areas AbnormalityOsteomalacia of themetacarpophalangealGout epiphysis of the joints oligosaccharides Functional abnormalityAbnormality of the middle of the sclera Abnormality of globe size Abnormal CD4-positive, Ascending aortic aneurysm Aorto-ventricular tunnel Necrotizing myopathy Limb pain Abnormality of body weight Lytic defectsPleural of ulnar mesothelioma metaphysis Hemihypertrophy AbnormalitiesPolyarticular of placenta chondrocalcinosis or Glycopeptiduria Blue sclerae Malformation of the heart and great Single ventricle Agenesis of central incisor EEG with burst suppression Decreased activity of mitochondrial Abnormality of T cell number Ventricular fibrillation deficiency callosum muscles bones Abnormality3rd of themetacarpal epiphysis of the Wide radioulnar joints Increased urinarySacroiliac O-linked arthritis hearing impairmentEpiscleritis Abnormality of the biliary system impairment Congenital conductive hearing CD25-positive, alpha-beta B lymphocytopeniaPremature separation of Abnormal coronaryDilation arteryof lateral course ventricles Low-molecular-weight proteinuria genitaliaHumeral sclerosis Hemiatrophy of lower limb ear Abnormal ventriculo-arterial respiratory chain Increased proportion of HLA DR+ Fatty replacement of skeletal muscle Dysphagia Abnormality of the proximal ulnar Hyporeflexia of lower limbs Abnormal tendon morphology umbilical cord Short metacarpals with rounded 4th metacarpal Abnormality of the Hepatocellularsialopeptides necrosis Mild conductive hearing impairment impairment vessels Diplopia Intrahepatic cholestasis with regulatory T cell morphology Decreased activity of mitochondrial centromeric heterochromatin Skeletal myopathy Vestibular areflexia Abnormality of theEunuchoid rightAplasia/Hypoplasia habitus of the Abnormality of the abdominal Paraganglioma Upper limb asymmetry Exudative retinopathy HepaticVentricular agenesis aneurysm Hemiparesis Moderate conductiveMalformation hearing of the hepatic ductal connection Reduced circulating T-helper cells Low-to-normal blood pressure Genital tract atresiaGrowth hormone deficiency Agenesis of corpus callosum Slender humeralSlender diaphysis long bone DecreasedEdema Achilles of the lowerreflex limbs CerebellarMorbus KienboeckAbnormality of upper limb joint proximal ends Degenerative joint disease Conjunctival whitish salt-like Paralytic lagophthalmos episodic jaundice Agenesis of lateral incisor Saccular descending thoracic aortic and CD57+ T cells Abnormality of the aorta Generalized muscular appearance Vertigo hemidiaphragm abdominal wall musculature epiphysis Skeletal dysplasia Increased density of long bones Neoplasm of the skeletal system Palmar hyperkeratosis Coxa magna Cellular immunodeficiency Old-aged sensorineural hearing UnilateralMild deafness hearing impairment impairment Anomalous origin of left pulmonary Hypoplasia of the upper eyelids complex I Myofibrillar myopathy Enlarged hippocampus Impaired visually enhanced NonarterioscleroticPositive ferric cerebral chloride test Abnormality ofPectoralis skeletal physiologyamyotrophymusculature UpperLong metacarpals limb hypertoniaPseudarthrosis (humeral) Abnormality of umbilical vein blood Lytic defects of humeral diaphysis Abnormal jointShort morphology 2nd metacarpal Abnormality of the conjunctiva Sensorineural hearing impairment deposits plate aneurysm Descending aortic aneurysm Impaired lymphocyte transformation Decreased muscle mass from birth Neoplasm of the nervousPredominantly system lower limb Thymoma Cortical thickening of handSubretinal bones exudate Lower limb undergrowthCervix cancerPartial humoral immunodeficiencyOligosacchariduria Abnormality of the orbital region impairment Tetraplegia artery from ascending aorta Neonatal cholestatic liver disease Hypsarrhythmia Abnormality of zinc homeostasis Increase in T cell number Abnormality of the coronary arteries vestibulo-ocularIncreased reflexserum calcification Neoplasm of the lung flow Congenital portosystemic venous PunctateAbnormal vertebral ossification calcifications of hand bones Severe T-cell immunodeficiency Severe sensorineural hearing Thoracic aorticDilatation aneurysm of the abdominal aorta Absent microvilli on the surface of Vertebral artery Foamhypoplasia cells in visceralSmall cerebral organs cortexand Diffuse leukoencephalopathy Decreased bodyNeuromuscular weight dysphagia Spontaneous, recurrent epistaxis lymphedema NeoplasmCoarse oftrabeculae the thymus (humeral)Lower limbAbnormality muscleLower weakness of limb Abnormalupper hypertonia limb morphology bone of ulna Increased spinal boneDiaphyseal density sclerosis of the upper Increased hepatocellular lipid Arthritis Protruding coccyx Progressive intervertebral space Nocturnal lagophthalmos Double inlet to single ventricle with Abnormal alpha-beta T cell Increased number of CD4-/CD8- T with phytohemagglutinin 1,25-dihydroxyvitamin D3 Firm muscles HyperphosphatemiaAbnormality of ion homeostasis Transient hyperphenylalaninemia Gastrointestinal angiodysplasia Fibroma of the breast Cutaneous leiomyoma Abnormality of the patella shunt Limitation of joint mobility Septic arthritis impairment Intrahepatic cholestasis Agenesis of mandibular incisor peripheral blood lymphocytes Impaired histidine renal tubular Partial abdominal muscle agenesisMidline brain calcificationsChewing difficulties Corner fragments of ulnar Thickened cortex of long bones Lower limbBowing asymmetry of theOsteopoikilosis arm Hemihypertrophylimbs of upper limb Vertebral hyperostosis Bicornuate droplets Mouches volantes narrowing Double inlet to single ventricle of morphology Absence of mature B cells CNS Decreased serum leptinMyositis Abnormality of the cerebral Hypoplasia of the corpus callosum Broad ischia Abnormality of the humerus Bone-in-a-boneHemiatrophy appearanceAutoamputation of upper of limb Chordoma Abnormality of the liver IncreasedMeconium arm stainedspan amniotic fluid Progressive sensorineural hearing Mild neurosensory hearing Cicatricial lagophthalmos common atrioventricular orifice cells expressing alpha/beta T-cell Aortic aneurysm absorption Foam cells with lamellar inclusion Sloping radialmetaphysis metaphysis Abnormality of the musculature of Abnormality of the immune system Crumpled humerus Supernumerary metacarpal bones Osteoblastoma Profound sensorineural hearing Abnormal T cell morphology Thoracic aorta calcification Medial calcification of small arteries Fused lumbarNasal vertebrae mucosa telangiectasia Irregular ossification of the radial carpal bones multiformeLimitation of movement at ankles Restricted large joint movement Polyhydramnios Abnormality of the coccyx Double inlet right ventricle indeterminate morphology Fusiform descending thoracic aortic receptors Abdominal aortic aneurysmVentricular arrhythmia Medial calcification of medium-sized bodies Secondary growth hormone Elevatedsubcortex plasma pyrophosphate Thigh hypertrophy Abnormality of the diaphragm the limbs Stiff interphalangeal joints Accessory lunate Neoplasm of the gallbladder impairment impairmentimpairment EEG with generalized epileptiform Medial calcification of large arteries Hypoplasia of the abdominal wall Widened metacarpal shaft IrregularY-shaped metacarpals metacarpals ScleroticAbnormality foci of the humerus of limbsEdema Abnormalityof the upper oflimbs nasal hair Anomalous origin of one pulmonary EEG with generalized spikes Abnormality of Hypotensioncirculating arteries Cerebral cortex with spongiform Calcinosis Abnormality of urine glucose Hypertonic dehydration metaphysis Hypophosphatemic rickets Hepatosplenomegaly Abnormal calcification of the carpal Lipid accumulation in hepatocytesAbnormalityGustatoryCombined of glycoside lacrimation immunodeficiency metabolism ModerateTransient hearingSevere hearing impairment hearing impairment impairment Keratoconjunctivitis Peripheral pulmonary artery stenosis Cholestatic liver disease discharges aneurysm Severe B lymphocytopenia Abnormality of natural killer cells Myopathy deficiency musculature Diastasis recti SpondyloepiphysealLethalProximal skeletal dysplasia tapering dysplasia of metacarpals MastocytosisElongatedSlender radius humerus Abnormal nervous system Myocardial calcification Aminoglycoside-inducedLow-frequency hearing hearing loss artery from ascending aorta corticosterone level Abnormality of circulating changes Foam cells concentration Decreased urinary glucose ElevatedBone pain calcitonin Denervation of the diaphragm Thin metacarpal cortices LymphangiomaHypertrophy of the upper limb Progressive bowing of longUpper bones limbbones undergrowth Abnormality of the uterus Increased urinary disaccharide Absence of memory B cells Increased number of peripheral Intramuscular hematoma Multifocal breast carcinoma Slender metacarpalsNeoplasm of the central nervous Osteomyelitis due to Adenoma sebaceumAbnormality Hypoplasticof bone mineral distal densityAbnormality Fluctuatinghumeri of splenomegaly the spinocerebellar Shortening of all metacarpals electrophysiology Conjunctival lipoma Pigmentation of the sclera loss Pulmonary artery atresia Double inlet left ventricle Supraventricular tachycardia with a Enlarged fossa interpeduncularisglucocorticoid level Central tapetoretinalAbnormality dystrophy of phosphate AngulatedIncomplete humerus ossification of pubisFractures ofBroad the long forearm bonesShort bones palm Anomaly of the upper limb diaphyses Uterine rupture excretionSpinal dysraphism Moderate sensorineural hearing Congenital malformation of the left Eversion of lateral third of lower Double inlet to single ventricle with Paroxysmal atrial tachycardia CD3+ T cells Ambiguous genitalia Episodic hypertension AbnormalAbnormality vestibulo-ocular Abnormalityof cells reflexof the of lymphoid muscle morphology concentration Vestibular dysfunction SpondyloepimetaphysealCuppedsystem ulnardysplasia metaphysis ParanasalAbnormal sinus neoplasmimmunodeficiency morphology of bones of Delayed ossification of the hand OsteoarthritisPseudoepiphysis of the elbow of the 4th Aplasia/Hypoplasia of the choroid Conjunctival nodule Intervertebral space narrowing Cholestasis Acholic stools Increased serum zinc Neuronal loss in the cerebral cortex Periventricular cysts Progressive cervical vertebral spine Glycosuria homeostasis Leg muscle stiffness Bowed humerus tractsReye syndrome-like episodes Bifid uterus AbnormalityAbnormal of femalethe sacroiliac reproductive joint impairment heart eyelids Ablepharon Abnormal connection of the cardiac two atrioventricular valves Oligodontia of primary teeth manifest accessory pathway on the AorticDilated atherosclerosis third ventricle Large artery calcificationAbnormality of the cerebral cortex lineage Echogenic intracardiac focusAngulated forearm bones Abnormal umbilical cord bloodbones Vitreous hemorrhagemetacarpal Radioulnar dislocation Abnormality of galactoside Long coccyx Precocious atherosclerosisAccelerated atherosclerosis Reduced phenylalanine hydroxylase Hypoplasia of the pharynx Peripheral retinal atrophy the upper limbs Menstrual irregularities Elbow flexion contracture Reduced catalase activityAplasia/hypoplasia of the uterus system physiology Absent pulmonary artery segments right free wall Endopolyploidy on chromosome Calcification of the aorta Enlarged sylvianCortical cistern dysplasia Hypertensive crisis Hypervolemia fusion Cone-rod dystrophy Hyperphenylalaninemia Multiple skeletal anomalies Abnormality of the skeletal system Retinal calcification Joint hemorrhage vessels Depletion of mitochondrialUterus DNA didelphys in metabolism AV nodal reentry tachycardia Abnormality of natural killer cell Urethral atresia, female activity Aplasia/Hypoplasia of the diaphragm Abnormality of the distal ulnar Webbed neck Forearm undergrowth Increased fetal movementOsteomaPseudoepiphysis of the 3rdProgressive joint destruction Hypoplasia of the uterus Bilateral sensorineural hearingHearing impairment Supraventricular tachycardia with a Abnormality of T cells Premature chromatid separationstudies of bone marrow Enlarged interhemispheric fissure Hypovolemia Hyperchloremia Aplasia of the vestibularPericentral nerve. retinal dystrophy Muscle hypertrophy of the lower Splenomegaly Absent humerus liver Hypoplasia of choroid Progressive hearing impairment Hypoplasia of the odontoidUpper process eyelid coloboma Hypoplasia of the lower eyelids Double inlet atrioventricular Supramitral ring Myocardial infarction Gonadal tissue inappropriate for Abnormal external genitalia Medially sloping radial metaphysis epiphysis Angioid streaks of the retinaAbnormality of prenatal AbnormalityDelayed of the Undermodeledpatellar humeral ossification diaphysis humerusPseudo-fractures metacarpal Reduced arm span Oligohydramnios Arthralgia/arthritisCirrhosis Abnormality of neural tube closure impairment Hypoplastic left heart Extrahepatic cholestasis manifest accessory pathway on the number Granulomatous coronarySubependymal arteritis cysts Aplasia/Hypoplasia of the corpus Recurrent fractures Multiple epiphysealextremities dysplasia Abnormality of the deltoid Internal hemorrhage Functional abnormality of the inner Abnormal numberShoulder of vertebrae flexion contracture Accessory scaphoid Macronodular cirrhosis Pulmonary artery sling Abnormality of iron homeostasis Abnormality of the mitochondrion external genitalia or chromosomal Abnormality of calcium-phosphate Recurrent singultus developmentHumerus or birth varus Increased hepatic glycogen content Abnormal cervical curvature Pulmonary artery stenosis Lagopthalmos connection left free wall Elevated hepatic iron concentration Frontoparietal cortical dysplasia Abnormality of the fourth ventricle Monocytopenia Abnormality of blood volume callosum Hypophosphatemia Abnormality of the musculature tuberosities Abnormal enchondral ossificationSynostosis involving theProgressive elbow ear forearm bowingWide humeral diaphysis Scapular winging ArthralgiaPseudoepiphysis of the 5th Paroxysmal supraventricular Abnormal activity of mitochondrial Angina pectoris Ventriculomegaly Abnormality of chloride homeostasisRetinal pigmentary dystrophy Abnormality of the Central Y-shaped metacarpal FetalDelayed fifth finger pubic clinodactyly boneMassively ossification thickened long bone AbnormalityCardiac of the hemangioma fetal Aplasia/Hypoplasia of the radiusIrregular ossification of hand bones Galactose intoleranceRheumatoid arthritis Decreased beta-galactosidase Keratoconjunctivitis sicca Abnormal hepatic iron concentration Increased activity of mitochondrial Renal insufficiency sex Elevated diastolic bloodAbnormal pressure monocyte count homeostasis Increased susceptibilitymetabolism to fractures Enlarged fetal cisterna magnaMiosis Decreased mitochondrial complex III SaccularFetal conjunctival polyuriametacarpal aneurysms Profound hearing impairment tachycardia Premature coronary artery disease Positive regitine blocking test Alzheimer disease Atypical hyperphenylalaninemia Oral-pharyngeal dysphagia cortices Deformed humeral heads cardiovascular system GliomaNodularRetinal regenerative hamartoma hyperplasia of Abnormal enzyme/coenzymeAbnormalityElevated activity hepaticof the radioulnar transaminases joints activity Aplasia/Hypoplasia affecting the Ectropion of lower eyelids respiratory chain Medial arterial calcification AbnormalityAbnormality of forebrain of the morphology hemidiaphragms Abnormality of phenylalanine Abnormality of the pharynx Cortical thickening (humeral) Lateral displacementEctopic of patellae calcification activity in liver tissue Obliteration ofNail frontal bed sinuses telangiectasia Mid-frequency hearingAbnormality loss of the nasolacrimalLower eyelidPulmonary coloboma artery aneurysm respiratory chain Electron transfer Ovotestis CongenitalHypoplasia miosis of fetal nasal bone Cortically dense long tubular bones Calcification of muscles Fractured radius Abnormality of ductus venosusliver Abnormality of the amniotic fluid Impairment of galactose metabolism Hemiplegia/hemiparesis Increased intervertebral space Ectropion eyelid Agenesis of incisor Supraventricular tachycardia with a Abnormal transferrin saturation Reduced natural killer cell activity Abnormality of chromosome Coronary artery calcification Abnormality of blood circulation metabolismMuscular edema Upper limb muscle weakness Intraretinal exudate system Blepharitis Parachute mitral valve Supraventricular tachycardia with a Coronary artery stenosis Abnormality of the Schizencephaly Fused cervical vertebrae HypoplasiaAgenesis of theof the diaphragm diaphragm Areflexia Osteoporotic humerus Basal cell carcinoma Elbow ankylosis Joint stiffness Abnormality of refraction Pulmonary arterial medial Dystopic os odontoideum manifest accessory pathway Junctional ectopic tachycardia Elevated transferrin saturation flavoprotein-ubiquinone True hermaphroditism Renal tubularThick dysfunctioncerebral cortex Elevated systolic blood pressure Fusion of midcervicalMacroreticular facet jointsretinal dystrophy Abnormality of the ulnar epiphyses Patellar subluxation Lytic defects (humeral)Cortical sclerosisblood flow Decreased fetal Cysticmovement liver diseaseHepatic cysts Intervertebral disk calcification Gingival hyperkeratosis Spinal instabilityHypoplastic heart Cervical instability manifest accessory pathway on the Hypocupremia segregation Overgrowth of external genitalia Paroxysmal lethargy Chronic hepatitis due to Pathologic fracture Renal amyloidosis Lytic defects of radial diaphysis Abnormality of the vertebral column hypertrophy Defect of palpebral conjunctiva Prominent epicanthal folds Abnormality of copper homeostasis Decreasedoxidoreductase activity defect of the pyruvate Abnormality of the male genitalia Pharyngeal edema Spinal cord tumor ScleroticAsymmetric foci of humeral growth diaphysis HyperplasticSclerotic callus scapulae formation Gingival fibromatosis Short lower limbs Abnormality of the posterior Lens coloboma Reversed usualEpibulbar vertebral dermoid column Os odontoideum Oligodontia septum Megacalicosis cryptospridium infection Increased urinaryBranchial cortisol fistula level IrregularThickened patellae cortex of bones Tendon rupture Palmar pits Abnormal liver function tests during Decreased serum ceruloplasmin dehydrogenase (PDH) complex Incomplete partition of the cochlea MonocytosisAbnormal urine cytology Abnormal mitochondria in muscle Sloping ulnar metaphysis Squamous cell carcinoma Single umbilical artery ShortPseudoepiphysis forearm of the 2nd Arthropathy ColobomasegmentCervical of the eye endometriosis curves Atlantoaxial abnormality AV nodal tachycardia Reversible renal failure Elevated mean arterial pressure Retinal dystrophy OvalAbnormality transradiancy of (humeral)theAbnormal neck morphology of forearm Shoulder girdle muscle weakness pregnancy Sacroiliac joint synovitis Dacrocystitis Hypodontia type I Mild fetal ventriculomegaly Painless fracturesBreast duecarcinoma to injury Neoplasm of the breast Exostoses of the radial metaphysis Bipartite patella Lateral humeral condyle aplasia Retinal exudate Carpal osteolysis Hyperuricemia Abnormality of the vitreous humorPeripheral vitreousAbnormality opacities of the intervertebral disk Atlantoaxial instability Abnormal natural killer cell tissueHypoplasia of the vestibularMorphological nerve abnormality of the Posterior pharyngealBranchial cleft sinus Neoplasm of the respiratory systemRetinal hemorrhagebone Prenatal movementOptic abnormality glioma metacarpal Limited shoulder movement Capitate-hamate fusion Severe combined immunodeficiency Absent ethmoidal sinuses EEG with hyperventilation-induced Decreased transferrin saturation Decreased urinary copper Hypertension associated with HypertensionParoxysmal drowsiness Cervical vertebral fusion (C3/C4) Renal hypophosphatemia Hyporeflexia of upper limbs Aplasia/hypoplasiaSubcutaneous involving calcification the AbnormalityAbnormality of the vasculature of cardiac ofmorphology Prominent frontal sinuses Hypoplastic frontalMixed sinuses cirrhosis Herniation of intervertebral nuclei Epicanthus inversus Abnormal serum iron Abnormal urinary copper physiology Nonprogressive congenital retinal Dehydration Retinal lesions Central retinal exudate Bowed forearmHypoplasia bones of the radius Abnormality of the lunate bone ChoroidalLimited sclerosis wristPolycystic movement liver disease focal epileptiform discharges concentration High nonceruloplasmin-bound Erythrocyte cylindruria Renal tubular lysine transportIncomplete defect partitionPyuria of the cochlea pheochromocytoma Increased resting centralenergy nervousexpenditure systemChronic hepatitis Giant cell hepatitis Diaphragmatic eventrationFetal ultrasound soft marker Thickened nuchal skin fold Limb muscle weakness Osteosclerosis of the ulna Hepatic calcification skeleton the conjunctiva Aplasia of the uterus Micronodular cirrhosis Pulmonary artery dilatation Epiblepharon of lower lid Anterior atlanto-occipital dislocation Mitral stenosis Congenital mitral stenosis concentration Deficiency or absence ofIncreased rate of premature Cylindruria AbnormalityHypochloremia of the left Diabetic ketoacidosis Abnormality of the femaledystrophy genitaliaBowing of limbs due to multiple Proximal limb muscle stiffness Digital flexor tenosynovitis 6 metacarpals Paranasal sinus hypoplasia Spinal canal stenosis Supraventricular tachycardia with an Abnormal serum ferritin serum copper BranchialParaspinal cyst muscle hypertrophy Ankle clonus Hypergalactosemia chromosome condensation Nonocclusive coronary artery EnlargedAtherosclerosis cisterna magna fractures Pericentral pigmentary retinopathy Spondylometaphyseal dysplasia Neoplasia of the pleura GeneralizedCortical edema diaphyseal thickeningCortical of the thickening of humeral Abnormality of the Aplasia/Hypoplasia involving the LimitedCardiomegaly wrist extension Abnormal heart morphology Cleft eyelid Spinal dysplasia Spondylolisthesis at L5-S1 Marginal corneal dystrophy Spherocytosis EEG with hyperventilation-induced Young adult onset Permanent junctional reciprocating cytochromeMitochondrial b(-245) propionyl-CoA Aseptic leukocyturia hemidiaphragm Abnormal genital system Reticular retinal dystrophy HypersplenismCortical irregularity of humeral Persistent patent ductus venosus Reduced carnitine Elevated serum transaminases Persistence of the hyaloid artery SpondylolisthesisIntervertebral disc degeneration accessory connection mediated Mitochondrial malic enzyme reduced Abnormalitydisease of chromosome Multiple prenatal fractures Transient hypophosphatemia Phenotypicupper abnormality limbs diaphysis Joint swelling Exostoses of hand bones carpal bones Abnormality of the uterine Cervical insufficiencyCervical polyp Agenesis of permanent teeth Middle age onset tachycardia Restrictive heart failure Superior mesenteric arteryAbsent aneurysm external genitalia Drowsiness morphology Elevated sweat chloride Falciform retinal fold diaphysis Abnormality of skeletal morphology NeoplasmBrainstem of the glioma inner ear Odontoma during infections VitreousHigh-frequency detachment hearingAbnormality impairment of the pulmonary artery Atlantoaxial dislocation Ambiguous atrioventricular generalized epileptiform discharges pathway Supraventricular tachycardia Fingerprint intracellularMitochondrial lysine carboxylasetransport defect (PCC) defect condensationIncomplete partition of the cochlea Calcification of the small brain IncreasedLimb nuchal hypertonia translucencyAsthma Abnormal morphologyAbnormal of the radius cortical bone morphology Cortical thinning of hand bones Upper extremity jointProgressive dislocation leg O-palmitoyltransferasebowing activity Abnormality of the odontoid process Pulmonary artery hypoplasia Lumbar spinal canalSpeckled stenosis corneal dystrophy Myxomatous mitral valve Anodontia Abnormality of circulating cortisol Leukocyte cylindruria Post-angioplasty coronary artery Arterial calcification Hypoglycemic coma Ductal carcinoma inBony situ spicule pigmentary retinopathy Abnormality of the thymus Edema of the dorsum of feet Cutaneous mastocytosis Autoamputation of digits Scapulohumeral synostosis Numerous nevi Abnormal aldolase level Tetraplegia/tetraparesis Euryblepharon connection Mitral valve arcade Increased urinary copper accumulation of autofluorescent type II Abnormality of the vertebral artery Cervical vertebral fusion (C2/C3)Visual agnosia Ectopic thymusPigmentary tissue retinopathyPointed proximal second through Slender radius Broad diaphyses of the upper limbs 11 thoracic vertebrae Reduced aldolase level Pulmonary aterial intimal fibrosisKeratitis Accessory eyelid level Abnormality of renal calyx Chronic active hepatitis Abnormality of nervous systemvessels Absence of stomach bubble on fetal Branchial anomaly SlenderAbnormality ulna of the radius Edema Fractured forearm bones Aplasia/hypoplasiaAbnormality involving of the forearm humeralHemiatrophy heads Wrist flexion contracture Pericardial mesothelioma Juvenile rheumatoid arthritis Epicanthus degeneration Cleft anterior mitral valve leaflet concentration Coronary artery diseaserestenosis Generalized arterial calcification Asymmetric limb musclefifth metacarpals stiffness Hepatic granulomatosis Radioulnar synostosis LimitedFallopian elbow movement tube Abnormalitycyst of the carpal bonesBilateral wrist flexion contracture Galactosuria Absent paranasal sinuses Mitral atresia Supraventricular tachycardiaSupraventricular with a tachycardia with a Decreased serum ferritin lipopigment storage material Coronary atherosclerosis Clitoral hypertrophy morphology morphology Aspirin-induced asthma bones Choroideremia Rectilinear intracellular Open operculum Cerebral berry aneurysm Extrahepatic portal hypertension sonography Short fetal femur length HumeroradialProximal muscle synostosis weakness Cortical thickening of the forearm MultipleDouble carpal first ossification metacarpals centers Abnormality of the frontal sinuses Vitreitis Spinal rigidity Band-shaped corneal dystrophy concealed accessory pathwayconcealed on accessory connection Impaired myocardial contractility Mitochondrial respiratoryMitochondrial chain depletion Abnormality of mitochondrial Posterior fossa cyst at the fourthArteritis Cervical vertebrae fusion (C5/C6) GonadalAbnormality calcification of radial diaphysis Calcific stippling of infantile Retinal striation Enlarged uterus Tortuosity of conjunctival vessels Spinal deformitiesSpondylolysis Pulmonary artery vasoconstriction Epiblepharon of upper lid Abnormal atrioventricular Microspherocytosisconnection Increased serum iron accumulation of autofluorescent Ambiguous genitalia, female Abnormal sweat electrolytes Lobular carcinoma in situ Hepatitis bones Aplasia/Hypoplasia affecting the Sacral dimple Morphea Punctate corneal dystrophy Late onset defects metabolismIncreased cellular sensitivity to UVAbnormality of cell physiology ventricle Genital ulcers Basal ganglia calcification Short fetal humerus length Abnormality of fluidRetinal regulation atrophy Anasarca Spurs of radial diaphysisBroad neck Lytic defects of carpal bones Fetal akinesia sequencePersistent pupillary membrane Generalized morning stiffnessPolyarticular CervicalarthropathyAbsent ectropion frontal sinuses Abnormality of the sacroiliac notch the right free wall Low-output congestive heart failure Copper accumulation in brain Hypoplasia of the frontal lobes Loss of consciousness Aneurysm Hypocalcemic tetany Status Asthmaticus Abnormalitycartilaginous of the retinaskeleton Abnormalityfundus of the scaphoid Myopia Hypoplasia of eyelid Epiblepharon Calcific mitral stenosis Visual field defect lipopigment storage material light Peripheral neuropathy Atheromatosis Spinal hemangioblastoma Hypertensive retinopathyVascular neoplasm Slender forearmSevere bones hydrops fetalisCortical diaphyseal irregularity of the Abnormality of the elbow Advanced pneumatization of cranial Choroidal dystrophy Persistent hyperplastic primary Microblepharia Cervical spinal canal stenosis Double orifice mitral valve EEG with hyperventilation-induced Abnormal iron deposition inAcute kidney injury Clitoromegaly Lethargy Acute hepatitis RadialCortical bowing irregularity (humeral) Dysostosis multiplex Abnormality ofDislocated the pupil Abnormalitywrist of the choroid Lower eyelid edema AnkyloblepharonSymblepharon Reduced number of teeth Agenesis of second permanent Intracellular accumulation of Pineal cyst Subacute progressiveHemimegalencephaly viral hepatitis Finger agnosia Abnormality of Squamous cell carcinoma of the skin FracturedHydrops ulna fetalis upper limbs sinuses Focal necrosis of right ventricular Amyloid deposition in the vitreous vitreous Anhidrotic ectodermal dysplasia Glaucomatous visualShort field chordaedefect tendineae of the epileptiform discharges Reduced systolic function Sensorimotor polyneuropathy Inferior mesenteric artery aneurysm Mesenteric arteryIntracranial aneurysm epidermoid cyst Renal diverticulum Enteroviral hepatitis Portal hypertension CerebralGeneralized edema muscle hypertrophy Gastrointestinal telangiectasia Pseudopapilledema Deformed forearm Deformedbones radius Skin adnexal neoplasm Conjunctival telangiectasiaAcral ulceration and osteomyelitis Lunate-triquetral fusion Vitreoretinal abnormalities molar Supraventricular tachycardia with a Increased serum ferritin ParadoxicalIncreased increased circulating cortisol cortisolautofluorescent levelmitochondria lipopigment storage Pelvic kidney Ectopic kidney Prosopagnosia Abnormality of cells of the Abnormality of the cochlear nerve Laryngotracheal stenosis Late-onset proximal muscle Dysplastic patellaGround glass opacity of humeral muscle cells humor Narrow sacroiliac notch Spinal stenosis with reducedCongenital corneal dystrophy Progressive visual field defects mitral valve Absent cellularGlobal immunity systolic dysfunction Curvilinear intracellular affecting arms more than legs AnteriorlyAbnormality displaced of genitaliathe vestibular nerve Abnormality of Krebs cycle Glutathione synthetase deficiencyPulmonary metabolism/homeostasislymphangiomyomatosis Abnormality of the ulna Abnormality of the spleen Constricted radiusDelayed puberty Abnormality ofAbnormality the vasculature ofleading the of forearm to autoamputation of the Ectopia pupillae Cervical agenesis Back pain Stomatocytosis concealed accessory pathway on Increased sensitivity to ionizing Coma Severely reduced ejection fraction Fetal choroid plexus cysts Abnormality of the cardiovascular Retinal dysplasia weakness diaphysis Humeroulnar synostosis Maldevelopment of radioulnar joint Aplasia/HypoplasiaChoroidal of thedegeneration frontal Anisometropia interpedicular distance Mitral regurgitation Mesiodens Abnormality of T cell physiology secretion on dexamethasone material Abnormality of the cell cycle Hyperechogenic kidneys Abnormal energymonocyte/macrophageViral expenditure hepatitis lineage Abnormal metabolismsweat homeostasis Abdominal wall muscle weakness Fetal cystic hygroma Abnormality of the cortex of the Abnormality of the dorsalCardiovascular column ofthe eye calcification Anisocoria Upper eyelid edema Hypoplastic right heart Prolonged neonatal jaundiceExtension of eyebrows towards Adult onset accumulation of autofluorescent radiation Aneurysm of an abdominal artery Diffuse cerebral sclerosis Atypical or prolonged hepatitisScapular muscle hypertrophy digits (feet) Hepatic fibrosis sinuses Telecanthus Agenesis of first permanent molar the left free wall Exaggerated cellular immune suppression test Congestive heart failure Acute episodes of neuropathic Abnormality of superoxide Patchy sclerosis of radialDiaphragmatic diaphysis weaknesssystem Peripheral edema Ulnar bowing Exostoses (humeral) Hypoplasia of the ulnathe spinal cord Absent/hypoplasticAcute paranasal hyperammonemia Ocular pain upper eyelid Discordant atrioventricular Abnormal number of permanent Supraventricular tachycardia with a lipopigment storage material Clitoral hypoplasiaSensory neuropathy Aplasia of the left hemidiaphragm Cerebral aneurysm Hyporeflexia humerus Stippled calcification of hand bones Connective tissue nevi Elevated aldolase level Tetraparesis tooth processes High-output congestive heart failure symptoms Granulovacuolar degeneration metabolism Echogenic fetal bowel Abnormality of the spinal cord Abnormality of the eleventh cranial Choroid coloboma sinuses Abnormality of the ilium UnderfoldedHypohidrotic superior ectodermal helices dysplasia Jaundice Lattice cornealIntermittent dystrophy jaundice connection Intraaxonal accumulation of Cerebral degeneration Premature arteriosclerosis Hepatic vascular malformations Abnormality of the lymphatic system Splenic rupture Abnormality of skin adnexa Generalized papillary lesions Widened sacrosciatic notch Premature calcification ofPyropoikilocytosis mitral teeth Embryonal onset concealed accessory pathway on Nephroptosis Cerebral artery atherosclerosis Absent urinary urothione Bilateral fetal pyelectasis Prominent deltoid tuberositiesEpisodic upper airway obstructionAbnormalLipemia retinal retinalis folds Abnormality of the humeroulnar joint Pelvic exostoses Polycoria Neuropathic arthropathy Punctate keratitis curvilinear autofluorescent Decreased circulating cortisol level PolyneuropathyChronic sensorineural Abnormal localization of kidney Abnormal echocardiogram Abnormality of pineal morphology Abnormality of the cerebrum Abnormal urinary color Pointed ulna Thoracoabdominal wall defects Pallor of dorsal columnsnerve of the Limited elbow extension Focal seizures with impairment of Anteriorly placed odontoid processAbnormality of the eyelid Enlarged semicircular canal Elliptocytosis Mitral valve prolapse Hypomature dental enamel the septum Semilobar holoprosencephalyMononeuropathy Celiac artery aneurysm ParotitisAbnormal homeostasis Long neck Enchondroma Facial edema Absent forearm Abnormality of the wrist Proximally placed lunate Hypermetropia Scleroderma Corneal dystrophy annulus Abnormality of the mitral valve lipopigment storage material Long chain 3 hydroxyacyl coA polyneuropathy Intracranial dermoid cyst Abnormal renal morphologySomnolence Increased urinary thiosulfateEnlargement of parotidFetal gland pyelectasis Thymus hyperplasia Exostoses ofLimb-girdle the radius muscle weakness Hypoplasia of proximal radius Choroidal hemangiomata spinal cord Stiff shoulders consciousness or awareness Acrokeratosis Abnormality of the curvature of the Large central visual field defect Ectopic supraventricular rhythms Decreased plasma carnitine ProgressiveHoloprosencephaly peripheral neuropathy Hyperesthesia Cystic medial necrosis Abnormal urinary odor Nonimmune hydrops fetalis Abnormality of forearm boneCortical irregularity Abnormality of the integument Dorsal column degenerationAbnormality of the fundus Bilateral choroid coloboma Abnormal erythrocyte enzyme Abnormality of the lacrimal punctum Overriding atrioventricular valve dehydrogenaseProlonged G2 deficiencyphase of cell cycle Abnormality of brain morphology Decreased pyruvate carboxylase Osteomyelitis leadingAbnormal to amputation internal genitalia Retinal flecks Retinal malformation Abnormality of carpal bone Cervical kyphosis vertebral column Poikilocytosis Absent right sided atrioventricular Abnormal delayed hypersensitivity Primary T-lymphocyte immune Subcortical cerebral atrophy Porencephaly Abnormal urinary acylglycine profile Abnormal pineal melatonin secretionAplasia of the parotid gland Vascular calcificationSkeletal muscle hypertrophy HypoproteinemicSclerotic forearm edemabones Fallopian tube duplication AbnormalityAbnormality of the of shoulderthe hamate bone activity Abnormality of the ocular region Degenerative vitreoretinopathyHidrotic ectodermal dysplasia Entropion Sclerodactyly Sudden central visual loss Moderate Childhood onset Decreased plasma total carnitine Crossed fused renal ectopia Abnormality of unsaturated fatty Atrophy/Degeneration affecting the Retinal arteritis Bony spikule of ulnar epiphyseal GastrointestinalAbnormality arteriovenous of bone marrow cell Thick anterior alveolar ridges Abnormal shape of theStippled radius calcification of the elbow Fallopian tube torsion Proximally placed carpal bones Generalized abnormality of skin Ectopic lacrimal punctum connection Borderline Paroxysmal tachycardia skin test abnormalities Abnormality of prostaglandin Renal steatosis activity due to slow healing fractures Upper airway obstruction Congenital palmoplantar keratosis Varus deformity of humeral neck Abnormality of the sinusesossification Limited Crowdedpronation/supination carpalAplasia/Hypoplasia bones of of the Shoulderfallopian dislocation Narrow joint spaces of wrist Short sacroiliacEctodermal notch dysplasia Thickened skin Morphological abnormality of the Broad Sickledlateral eyebrow erythrocytes Decreased T cell activation acid metabolism Abnormality of fatty-acidHorseshoe metabolism kidney cerebrum ConfusionMegalencephaly Decreased activity of NADPH Molybdenum cofactor deficiency OsteomyelitisPalmoplantarmalformation keratosismorphology with Decreased number of vertebrae Straddling atrioventricular valve Atypical elliptocytosis Increased number of teeth Agenesis of permanent molar Congenital Sensorimotorperipheral neuropathy neuropathy metabolism Abnormality of the renal artery DecreasedAbsent orresting minimally energy ossified Agnosia Marked muscularplate hypertrophy Retinal thinning Broad radial diaphysis Joint swellingFlattened onset late humeral infancy heads forearm tube Blepharochalasis lateral semicircular canal Selective tooth agenesis Hypocalcification of dental enamel Fetal onset Dilated fourth ventricle Abnormality of DNA repair Intracranial cystic lesion Phosphoethanolaminuria oxidase erythemaPeripheral and scale retinopathy Exercise-inducedRetinal asthma hemangioblastoma Cleft lower alveolar ridge AbnormalityBone-in-a-bone of the cranial nerves appearance Hypopigmented fundi Depigmented fundus Polyarticular arthritis Morphological abnormality of the Peripheral visual field loss Distal peripheral sensoryAbnormality neuropathy of cardiovascular Reducedvertebral consciousness/confusion bodies Abnormality Congenitalof the hepatic symmetrical Paraganglioma of head and neck Abnormality of nitrogen compound Decreased carpal anglesHepatic of wrist bridging fibrosis Abnormality of erythrocytes Atretic lacrimalLow back punctum pain Granular corneal dystrophy Single median maxillary incisor Green teeth Juvenile onset Reduced delayed hypersensitivity Lobar holoprosencephalyEpisodic peripheralHyperprostaglandinuria neuropathyMotor polyneuropathy CerebralFatigable hypoplasia weakness of speech expenditure Abnormality of pineal physiology Morphological abnormalityFood intoleranceof the OropharyngealCysticOsteosclerosis hygroma squamous cell of the radius Curved olecranon DecreasedAplasia/Hypoplasia liver function of the ulna Absent forearm bone Clavicular sclerosis Malaligned carpal bone Palpebral edema Abnormally straight spine saccule Acanthocytosis Constricted visual fields Supernumerary maxillary incisor Congenital onset Hypoplastic female external genitalia system physiology Regional left ventricular wall motion Cochlear malformation Hydronephrosis DiaphragmaticLymphatic paralysis vessel neoplasm Premature birth Neoplasmhomeostasis of the ear HemihypotrophyAbsent radius of lower limb (forearm)Bilateral retinalAbnormality coloboma of the fifth cranial nerve Poor wound healingFragile skin Dermatochalasis Morphological abnormality of the Mitral valve calcification Profound Decreased plasma free carnitine Cardiogenic shock Defective DNA repair afterAbnormality ultraviolet of female Arterialexternal intimal fibrosis muscles Reduced ejectionArteriosclerosis fraction Abnormality of higher mental Abnormality of the musculature of vasculaturepalmoplantar keratosiscarcinoma PseudarthrosisEctopia ofof thethe spleenforearm bones Edema ofThin the bonydorsumDistal cortex of ulnar hands hypoplasia Progressive clavicular acroosteolysis Fundus atrophy Sciatica Cutaneous anergy Parathormone-independentConjugated hyperbilirubinemia Decreased methylmalonyl-CoA nerves of the inner ear Delayed oxidation of acetaldehyde Palmoplantar hyperkeratosis Abnormality of the inner Increasedear carrying angle Endocardial fibroelastosisUnilateral wrist flexion contracture AstigmatismIncreased red cell osmotic resistance Overfolding of the superior helices EEG with generalized low amplitude Entrapment neuropathy Kernicterusgenitalia Pineal gland calcification abnormality Fluctuations in consciousness Abnormalityfunction of the pectoral muscle the thorax Focal friction-related palmoplantar LeukocoriaAbnormality of the capitate bone Hyperammonemia anterior semicircular canal Absent left sided atrioventricular Impaired T cell function radiation damage increasedAbnormality renal tubular of urine calcium homeostasis mutase activity Absence of Stensen duct Hemangioblastoma Abnormality of the upper respiratory Abnormal bone structure Shagreen patch Elevated pulmonary artery pressure Elevated red cell adenosine Schistocytosis activity Mild Alobar holoprosencephalyAbnormality of fatty-acid anion Axial malrotation of the kidney hyperkeratosis Abnormality Forearmof the round reductionRetinal window coloboma defects Azotemia Periportal fibrosis High-grade hypermetropia Broad eyebrow connection Epileptiform EEG discharges Constrictive median neuropathy Arterial fibromuscular dysplasia Abnormality of the systemic arterial Dilatation of the renal pelvis Granulomatosis ChronicAbnormality recurrent of multifocal theThymic nervousAtretic hormone system occipital decreased cephalocele Reduced tendon reflexes Lytic defects of the radius TetheredAbnormal cord pupillary functionFocal retinal infarctionGowers Abnormalitysign of facialIrregular soft tissue articular surfaces Absentof the ulna Calcification of theAcral interosseus ulceration leading to Carpal bone malsegmentation deaminase activity Erythrocyte macrocytosisHypoplasia of the lacrimal puncta Sensory ataxic neuropathy Nephrosclerosis reabsorption Enlarged cochlear aqueductIpsilateral lack of facial sweating Decreased fumarate hydratase 5-oxoprolinase deficiency tract Tufted angioma Synovial chondromatosis of the Hypoplasia of the Morphologicalsemicircular canal abnormality of the Yellow-brown discoloration of the Hypomineralization of enamel Neonatal onset Supraventricular arrhythmia Abnormality of carnitine metabolism metabolism tree osteomyelitis Aplasia/Hypoplasia of the thymus Posteriorly dislocated ulna elbow joints membrane of theautoamputation forearm of digits Eyelid apraxia Elevated serum creatinine Increased blood urea nitrogen (BUN) Abnormality of the lacrimal gland Morphological abnormality of the Morphological abnormality of the Partial duplication of eyebrows Abnormal sex determination activity Madelung-like forearmAbnormality deformities of bone marrow stromal Delayed menarche Hair-nail ectodermal dysplasia posterior semicircular canal Anisopoikilocytosis Anterior cervical hypertrichosis teeth Grayish enamel Abnormality of acetylcarnitine Distal sensory impairment of all Neuronal loss in basal ganglia Perirenal hematoma Cerebral granulomatosis Gonadal hypoplasia elbowOsteoporotic Dysplastic forearm bonesradii Unilateral ulnar hypoplasia TinnitusEnlargement of the wrists WristSmall swelling scaphoid Madelung deformity utricle EMG: myopathic abnormalities Iron accumulation in substantia nigra Basal ganglia cysts Arteriosclerosis of small cerebral DecreasedChronic pain number of sweat glands Pleural empyema cells Retinopathy HemangiomaRegional abnormality of skin Chevron-shaped/cone-shapedCubitus valgus Increased hemoglobin oxygen semicircular canal metabolism Abnormal genital pigmentationmodalities Atrophy/Degeneration involvingAbnormal the pineal Bilateralvolume renal dysplasia Elevated urine pyrophosphate Absent internal genitalia Notched ulna Growth abnormalityAbnormality of head or neck Narrow carpal Aplasia/Hypoplasiajoint spaces involving the Desquamation of skin soon after Dental enamel pits Abnormality of long-chain fatty-acid Fatigable weakness of arterieschewing Hemosiderinuria Hyperbilirubinemia Cochlear degenerationSlender build Pleural effusion Long ulna Glomus tympanicum paraganglioma radius Myelopathy Weakness due to upper motor Severe MyopiaCutaneous photosensitivity affinity Aplasia of the semicircular canal Abnormal number of teeth Abnormal number of incisors Tachycardia Entrapment neuropathy of the ulnar caudate nucleus Absent ossification of cervicalModerately reduced ejection fraction Abnormality of the IntraalveolarExostosesBasalioma of nodular the ulna calcificationsof the Astrocytomaouter ear Sclerotic foci in forearm bones Abnormality of the skin Acral ulceration and osteomyelitisLimbCranial undergrowth nerve motor loss Hearing abnormality Comma-shapedCongenital myopia scaphoid birth Lumbosacral meningocele Abnormality of the cornea Red blood cell keratocytosis Agenesis of mandibular premolar Onset Ventricular flutter Pallidal degeneration Gangrene Aplasia involvingHypoammonemia forearm bones sinuses Ulnar deviation of the wrist Reduced red cell adenosine Congenital malformation of the right Medial flaring of the eyebrow Concentric narrowing of visual fields EEG with photoparoxysmal nerve at elbow metabolism Heart murmur Fatiguable weakness of proximal muscles Abnormal morphologyMildly reduced ejection fraction Salmonella osteomyelitis Pseudarthrosis of theArachnoid radius hemangiomatosis Abnormality of the menstrual cycle Two carpal ossification centersleading to autoamputation of digits Hepatic steatosis neuron dysfunction Periorbital edema Squared iliacReduced bones erythrocyte Highly arched eyebrow Biventricular heart with straddling Normal interictal EEG Severe Infantile onset Very long chain fatty acid Aplasia/Hypoplasia of the sweat Renal duplicationvertebral bodies Limbic malformations Hypermyelinated retinal fibers HyperuricosuriaSpinous keratoses of palms and Mucosal telangiectasiae Premature delivery because of Irregular ossification at anterior rib Abnormality of the twelfth cranial Abnormal circulating creatinine level Cervical myelopathy deaminase activity heart CornealDecreasedDiscoid perforation corneal lupus erythematosussensation Distal sensoryAplasia loss of the of alleccrine modalities sweatHypoplastic glands sweat glandsIncreased serum prostaglandin E2 Brain very small Cerebral cortical neurodegenerationlimb muscles Abnormality of the renal pelvis Recurrent intrapulmonaryDorsal subluxation of ulna present at birth Carpal bone Abnormalityaplasia of the scapula Asymptomatic hyperammonemia 2,3-diphosphoglycerate Absent lacrimal punctum right sided atrioventricular valve and response grade III Elevated serum long-chain fatty Elevated long chain fatty acids accumulation Olfactory lobe agenesisIron accumulation in brain Brain atrophy Fatigable weakness of swallowing Muscle stiffness solesSclerosis of skull base cervicalMenorrhagia insufficiency or membraneMyelitis ends nerve LimitedStippled elbow extensioncalcification and of the shoulder EEG with changes in voltage Severity Defective T cell proliferation glands Unilateral renal dysplasia Deficient excision of UV-induced Abnormality of the Abnormalitysubarachnoid of macrophages Abnormal peripheral nervous system Abnormality of cells of the PostnatalAbnormality cystic of the hygroma parathyroid Lytic defects of the forearm bones Abnormality of the vestibularOligomenorrhea window Limited elbow flexion/extension Dysplastic erythropoesis Severe photosensitivityIncreased red cell osmotic fragility concentrationIrregular iliac crest acids Increased pineal volumeAbsent left hemidiaphragm Renal malrotationmuscles Neonatal unconjugated Abnormality of the hemorrhage Mydriasis fragility Limited elbow flexion supination Hyperlordosis Abnormality of corneal shape Double eyebrow absent left sided atrioventricular Markedly reduced T cell function Hypoplastic olfactory lobes pyrimidine dimers in DNA Absent ossificationTortuous cerebral of thoracic arteries space Central fundal arteriolar morphologyAstereognosia Pectoralis major hypoplasia Abnormalitymegakaryocyte of glycoprotein lineage Abnormality of the musculaturemorphology ofPelvic girdle muscle weakness Cervicomedullary schisis Paraganglioma-related cranial nerve Tendon xanthomatosis Congenital hepatic fibrosis Blood group antigen abnormality Camptocormia Thoracic hypertrichosis Amelogenesis imperfecta Aplasia of the sweat glands Female pseudohermaphroditism Abnormality of cerebral artery Low urinary cyclic AMP response to hyperbilirubinemia Abnormality of parotid gland Cephalocele Spinal arteriovenous malformation Carpal bone hypoplasia Kyphosis connectionCongenital, generalized Agenesis of canine Agenesis of molar Abnormality of dental color Paroxysmal ventricular tachycardiaVentricular tachycardia Entrapment neuropathy of Axillary apocrine gland hypoplasia PosteriorLarge fossa basalcyst ganglia vertebral bodies microaneurysms metabolism the neck Cortical thinning (humeral) Bleedingpalsy requiring red cellAbnormality of the endocardium Down-sloping shoulders Abnormality of theIliac lumbar crest spine serration Thick eyebrow Univentricular heart with absent left Agenesis of maxillary premolar Abnormality of phytanic acid Carotid sinus syncope Syncope Abnormality of the basal ganglia PTH administration Abnormality of the glial cells Abnormality of the lymphatic vessels Abnormality of the olecranon Pulsatile tinnitus (tympanic Aplasia/HypoplasiaChorioretinal affecting coloboma the Diaphoresis Decreased(with corneal reflex Sparse lateral eyebrow hypertrichosis suprascapular nerve Paresthesia Bilateral basal ganglia lesions Ketosis Unilateral hypoplasia of pectoralis Hypoplasia of latissimus dorsi Hypoplasia of lymphatic vessels Cross-fusion of the forearm bones transfusionCalcific stippling Bilateral ulnar hypoplasia Congenital pseudoarthrosis of the Aplasia/hypoplasia affecting bones Hyperacusis Skin fragility with non-scarring Overfolded helix Abnormality of the line of Schwalbe Scotoma metabolism Renal dysplasia Fulminant hepatitis Abnormal bleeding paraganglioma) Abnormality of the middle ear Scapular exostoses Anisocytosis Warfarin-inducedpheochromocytoma) skin necrosisFacial flushing after alcohol intake Laterally extended eyebrow sided atrioventricularRight sided connection atrium to left ventricle Abnormality of dental enamel Aplasia/Hypoplastia of the eccrine Sensory axonal neuropathy AbnormalityRenal of artery circle stenosis of Willis Lipogranulomatosis Fatigable weakness of bulbar Vascularmajor tortuosity muscle muscle Aplasia of the thymus Elevated erythrocyteAbnormality sedimentation of the musculature of Abnormality of the tonsils Glomus jugular tumor retina Optic nerve colobomaof the axial skeleton Abnormal speech discrimination blistering Underfolded helix Hypoplastic ilia EEG with photoparoxysmalLocalized hypoplasia of dental Elevated levels of phytanic acid Hypoplastic posterior Hypocitraturia Abnormal urine citrate concentration Agraphesthesia Intolerance to protein Fusion of middle ear ossicles UndermodelledExostoses forearm of the bones forearm bones Absent in utero rib ossification Bilateral radial aplasia Absent trapezium clavicle TrigeminalShoulder neuralgia subluxation Corneal neovascularization Posterior embryotoxon and absent left sided atrioventricular Chronic kidney disease sweat glands Abnormality of the caudate nucleus Absent vertebralEnlarged body mineralization kidneys muscles Anhidrosis Ketonuria rate Neckthe muscle pelvis hypertrophy Punctate palmoplantar Muscle weakness Excessive bleeding after a Pulsatile tinnitus Abnormal ossification of the Abnormality of the glenoid fossa Hyperopic astigmatismEnlarged lacrimal glands Dermatological manifestations of EEG with localizedEEG with low photoparoxysmal amplitude response response grade IV enamel communicatingMoyamoya artery phenomenon Abnormality of cochlea Exudative pleural effusion Progressive proximal muscle Sprengel anomaly Glenoid fossa hypoplasia Abnormality of the thoracic spine Abnormality of corneal epithelium Horizontal eyebrow connection Generalized hypertrichosis Agenesis of premolar Increased caudate lactate level Enhanced neurotoxicity of vincristine hyperkeratosis venipuncture Exostoses Corneal stromalAbnormalityAbnormality edema of the of trapezoid the sixth bonecranialAbnormality nerve of cells of the erythroid activity EEG with photoparoxysmal Slow progression Episodes of ventricular tachycardia Iron accumulation inMixed globus demyelinating pallidusAbnormality and axonal of lysosomal Generalized anhidrosisIncreased urinary sulfite Increased megakaryocyte count weakness AbnormalityLong-tract of signs the humeroradial joint scaphoid Internally rotated shoulders Progeroid facialEarly appearance progressive calcific cardiac systemic disorders Sacral hypertrichosis Cerebral atrophy Decreased size of nerve terminals Reduced activity of Absent gonadal tissue Spinal cord compression lineage Absent glenoid fossa Odontogenic neoplasm Early cutaneous photosensitivity Uhl's anomaly Abnormality of the eyebrow Abnormally prominent line of response grade II Progressive disorder Frontal cortical atrophy Generalized cerebral Hypoplasia of the eccrine sweat polyneuropathymetabolism Increased total bilirubin Bilateral congenitalMorphological mydriasisAbnormal abnormality respiratory of the system AbnormalityProximal of the radio-ulnarjoint spaces synostosis of Advanced ossification of carpal DiffuseMicrovesicular hepatic steatosis hepatic steatosis valvular disease Hypoplastic inferior ilia Long eyebrows Elbow hypertrichosis EEG abnormality Demyelinating motor neuropathy Abnormality of pyrimidineAbnormality of retinal arteriesDiffuse axonal swellingAbnormality of the sweat gland Chylothorax Glioblastoma RetinalEpisodic hole ammonia intoxication Ectopic respiratory mucosaAbnormality of immune serum Absent trapezoid bone Comma-shaped carpal bones Iliac horns Corneal degeneration Schwalbe Woolly scalp hair Frontotemporal atrophy/hypoplasiacerebral atrophy HyperpigmentedHypopigmented glandsgenitalia genitalia Abnormalities of the peripheral Hypoplasia of serratusN-acetylglucosaminyltransferase anterior Hypoplasia II of the thymus innerPretibial earmorphology myxedema Bleeding withthe minor elbow or no trauma Celosomia bones Abnormality of the curvature of the Lumbar hyperlordosis Short iliac bones Synophrys Generalized hypoplasia of dental Neonatal hyperbilirubinemiaSevereSex reversal demyelination of the white metabolism AxialRetinal muscle arteriolar stiffness tortuosity Pituitary dwarfismSpinal cord posteriorDiffuse columns palmoplantar hyperkeratosisHipAbnormality flexor weakness of the pleuraAlveolar ridgeProgressive overgrowth muscle weakness Vagal paraganglioma Unilateral radial aplasia protein physiologyScarring Hypoplasia of the fallopianAbnormal tube cervical myelogram Sparse eyebrow Pericentral scotoma Effort-induced polymorphic Orthostatic syncope Demyelinating peripheral neuropathy arteries Poorly ossified vertebrae BacteriuriaAbnormality of urine bicarbonate Absencemuscle of pectoralis minor muscle Glabellar hemangioma Pretibial blistering Thickening of the lateral border of Cementoma Thoracic kyphosis cornea Laterally curved eyebrow enamel Freckled genitalia Abnormality of the celiac artery Agenesis of pineal gland matter Hyposthenuria Unconjugated hyperbilirubinemia Unilateral absence of pectoralisRetinal vascular tortuosityAbnormality of the vasculaturemyelin loss Abnormality of the respiratoryAbnormality of the seventh cranialMenometrorrhagia Abnormality of the trapezium Large capitate bone Flat glenoid fossa Absence of Lutheran antigen on Basal ganglia necrosisSmall basal ganglia Exercise-induced muscle stiffness AbnormalAngioedema umbilical stump bleeding LowCervical posterior cord hairline compressionAbnormal ossification of the MacrovesicularSupernumerary hepatic steatosis vertebrae PlethoraMosaic corneal dystrophy ventricular tachycardias Parietal cortical atrophy Cerebral artery stenosis Duplication of renal pelvis Aplasia/Hypoplasiaconcentration of the cerebrum major muscle Persistent bleeding after trauma Pterygium system nerve Retinal hypoplasia the scapula Keratocystic odontogenic tumor Female erythrocytes Facial hypertrichosis Hypoplasia of the tooth germ Hypoplasia of dental enamel Cerebral cortical atrophy Decreased pineal volume Caudate atrophy Nephrogenic rest Partially duplicated kidney Pulmonary edema Hyperostosis trapezoid bone Distal shortening of limbs Prematurely aged appearance Lower thoracic kyphosis Hypoplastic iliac body Hypertrichosis Lumbar hypertrichosis EEG with photoparoxysmal Nonprogressive disorder Abnormality of midbrain morphology UnossifiedMorphological vertebral bodies abnormality of the Arterial tortuosityTrimethylaminuria Impaired two-point discrimination Transudative pleural effusionAnomalous splenoportal venous Alveolar ridge cleft SubependymalPremature giant-cell birth following premature Acute hepatic steatosis Morphological abnormality of the Abnormality of the gallbladder Congenital kyphoscoliosisRibbonlike corneal degeneration Carious teeth Rapidly progressive Cerebral cortical hemiatrophy Global brain atrophy Abnormally shaped carpal bones Enlarged vestibular aqueduct Abnormality ofAged reticulocytes leonine appearance Brittle scalp hair response grade I Palpitations Vasovagal syncope Granular osmiophilic deposits Abnormality of the striatum pyramidal tract AprosencephalyPatchy demyelination of subcortical system Abnormality of polysaccharideRetinal perforation astrocytomarupture of fetal membranesMultiple enchondromatosis PolymenorrheaElbow dislocation Gingival bleeding vestibule of the inner ear Kyphoscoliosis Diffuse cerebral atrophy Cardiac shunt Multiple renal cysts Hemoglobinuria Abnormal lower motorBone-marrow neuron foam cells Intracranial hemorrhageCochlear aplasia Abnormality of proteoglycanHepatic arteriovenous malformation Atrophodermia vermiculataDecreased serum creatinine Corneal ulceration Woolly hair EEG with diffuse acceleration Stage 5 chronicStage kidney 2 chronicdisease kidney disease (GROD)Elevated in cells serum acid phosphatase white matter Allodynia Chaddock reflex Atrophy/Degeneration involving the Apraxia Axial musclemetabolism weaknessScapuloperoneal weakness Leber optic atrophy Metrorrhagia Small trapezoid bone Restricted chest movement Abnormal number of erythroid Female anorgasmia Flat cornea Abnormality of corneal thickness Curly hair PrefrontalCeliac hypometabolism artery compression in FDG Abnormality of the substantia nigra morphology Abnormality of central sensory Abnormality of the palm Abnormality of the hip-girdle Cranial nerve paralysis Fourth cranial nerve palsy Atresia of the Eustachian tubeDilated vestibule of the inner ear Cardiac valve calcification Thoracic scoliosis Abnormality of corneal size Alpha-EEG Pace of progression Acute demyelinating polyneuropathy Perilobar nephrogenic rest spinal cord Cystic medial necrosis of the aorta Abnormalitymetabolism of the thoracic cavity Tonic pupil Neoplasm of the oral cavity Delayed ossification of carpal bones precursors Scoliosis White eyebrowAplasia/Hypoplasia of the eyebrow EEG with constitutional variants Occipital cortical atrophy PET Cavitation of the basal ganglia Generalized arterial tortuosity Abnormal anterior horn cell function Facial muscle hypertrophy Broadmusculature secondary alveolar ridgeTonsillitis Endocarditis Hair follicle neoplasm Absent scaphoid Polycythemia Abnormality of the cementum Low voltage EEG Fatigable weakness of skeletal Carotid paraganglioma Pleural lymphangiectasia Abnormality of the retinal vasculature Fixed elbow flexion Aplastic/hypoplastic lacrimal glands Dry hair Posterior cerebral artery stenosis Retinal arteriolar occlusion UraciluriaHemophagocytosis Subarachnoid hemorrhageNon-caseating epithelioid cell Abnormal pulmonary lymphatics Neoplasm of the middleOptic ear disc hypoplasia Abnormal ossification of the Stenosis of the Eustachian tube Increased corneal thickness Acute Variable progression rate Stage 3 chronic kidney disease Abnormality of the globus pallidusSymmetric lesions ofRenal the basal atrophy morphology Central retinal vessel vascular Oromotor apraxia Limb apraxia Pancytopenia Delayed ossification of the scaphoid Large hamate bone Thoracolumbar kyphosisLumbar kyphosis Abnormality of canine Brittle hair Demyelinating sensory neuropathy Degeneration of the striatum Atrophy/Degeneration affecting themuscles Abnormal urine alpha-ketoglutarate granulomatosis GonadalCerebral dysgenesis arteriovenous malformation Pleuritis Redundant neck skin trapezium Hypoplasia of the vestibule of the Thoracic kyphoscoliosis Central scotoma Dysesthesia Abnormal Peripheralbrain FDG axonal positron neuropathy ganglia AbnormalHypercitraturia brain positron emission tortuosityAbnormality of the gluteal Abnormality of multiple cellAbnormal lineages pupillary lightExcessive reflex bleeding from superficial Decreased female libido Red hair Temporal cortical atrophy Left-to-right shunt Arterial stenosis Renal cyst central nervous system AbnormalSea-blue urinary histiocytosissulfate concentration 3-Methylglutaconic aciduria Gluten intoleranceBabinski sign Abnormality of nervous system Abnormality of the Eustachian tube inner ear Large iliac wings Megalocornea EEG with persistent abnormal Cardiac arrest Stage 1 chronic kidney disease emission tomographySmall flat posterior fossa Neurodegeneration Motor neuron atrophy Abnormality of the cerebral Retinal arterial tortuosity Pain musculature Megakaryocytopenia Neck muscle weakness in the bone marrow Pulmonary hypertension Aplasia/Hypoplasia of the scapulae Hypoplastic iliac wing Arterial dissection Abnormal CNS myelination tomography Bicarbonaturia concentration physiology Abnormality of pulmonary situs cutsAbnormality of the head Multiple exostoses Delayed ossification of the trapezoid Linear nevus sebaceous Increased red blood cell mass Abnormality of the wing of the ilium Conotruncal defect Fine hair Parietal hypometabolism in FDG PET FatigableNeuronal weakness loss in ofcentral distal nervous limb Decreased urine bicarbonate vasculature Bulbar palsy Palmoplantar blistering Arteriovenous malformationHemangiomatosis Supernumerary spleens Endocardial fibrosis Aplasia of the retina Large clumps of pigment irregularly Centrocecal scotoma EEG with 4-5/second rhythmicbackground activity Arrhythmia Abnormality of the septum Dilatated internalAstrocytosis auditoryNarrow canal internal auditory canal IrregularPoor olecranonhead control Muscle flaccidity NeoplasmAsymmetricSalivary of the radial glandouter dysplasianeoplasmear Stippled chondralAbnormal calcification bone collagen fibrilbone Abnormality of serum cytokine level Corneal scarring Herpetiform corneal ulceration Abnormality of hair texture Silver-grayScintillating hair scotoma Palpitations (with Stage 4 chronic kidney disease muscles concentration Reduced orotidine 5-primeRetinal arteriolar constriction Chorioretinal scars Gingivitis Patent tuba eustachii Thoracolumbar kyphoscoliosis Abnormality of dental structure Hypoplasia of teeth activity Subacute Chronic Right-to-left shunt Thalamic hypometabolismHypothalamic in FDG hypometabolism in Anterior cerebral arteryDeficiency stenosis of CerebralAbnormality ischemiaFatigable of the renal weakness cortex of necksystem muscles Episodic ketoacidosis pellucidum Abnormal pyramidal signs RetinalAplasia/Hypoplasia vein occlusion of the Bacterial endocarditis Neck pterygia morphology Irregular carpal bones Focal autonomic seizures without distributed along hair shaft pheochromocytoma) Molar tooth sign on MRI CNS hypermyelination Senile plaques Abnormal myelination phosphate decarboxylase activity Hypoplasia of the cochleaEpidural hemorrhage Abnormality of the internal auditory Cutis gyrataAplasia/Hypoplasia of scalp of theChorioretinal optic dysplasia Abnormality of the periorbital region Reticulocytopenia Increased hemoglobin PET FDG PET Middle cerebral artery stenosisN-acetylglucosamine-1-phosphotransferase musculature of the pelvis Parathyroid hyperplasia AbnormalitySix lumbar of vertebrae the gingiva Aplasia of the vestibule Beta-EEG Termporal pattern Generalized Eye of the tiger anomaly of globus Nephrocalcinosis CNS demyelination Hypertrophic nerve changes Long palm canal Speech apraxia Alveolar process hypoplasiaAbnormality of the radial head nerve Optic nerve aplasia Neonatal wrinkled skin of handsaltered and responsiveness Rhythm disturbances associated Poorly ossified cervical vertebrae Amyotrophic lateral sclerosis Diffuse demyelination of the cerebral Abnormality of the styloid process CavernousHepatic failure hemangiomaAplasia/Hypoplasia of the spleen Small trapezium Skin ulcer Fusion of gums AbnormalitySmall of abnormally corneal stroma formed scapulae Progressive congenitalPremature scoliosis graying of body hair Uncombable hair Age-dependent penetrance Sudden cardiac death Abnormality of chromosome stability pallidus Abnormality of the renal medulla Aplasia of lymphatic vessels Pure red cell aplasia Hypersarcosinemia Microcornea White hair Paroxysmal nocturnalwhite matter Oppenheimof reflex ulna Abnormality of the microglia Retinal vascular proliferation Narrow joint spaces of the elbowPopliteal pterygiumMacular edema Paraplegia/paraparesis feet Reticulocytosis Periodontitis Localized periodontitis Hypersarcosinuria with pheochromocytoma Hyperactive patellar reflex MyoglobinuriaReduced dihydropyrimidineImpaired touch localization PeripheralAcute hepaticProgressive retinal failure avascularization sclerosis of skull base AbnormalityChorioretinal of the abnormality ear Cartilage destruction Macular colobomaPrecocious costochondralAbnormal axial skeleton morphologyAbducens palsy Bidirectional shunt Abnormal germ cell morphology hemoglobinuria Attenuation of retinal blood vessels CavernousGeneralized hemangioma muscleLaryngeal of the weakness face calcificationAbnormalityFacial hemangioma of aromatic amino acid DelayedSternal ossification punctate of thecalcifications trapezium Micromelia Focal seizures without impairment Corneal asymmetry Coarse hair Widely spaced teeth Partial beta-EEG Insidious onset Tachycardia (with Polycystic kidney dysplasia dehydrogenase activity Congenital absence of gluteal Telangiectasia ossification Hypoplastic distal segments of White eyelashes Carotid artery tortuosity Temporal artery tortuosity Brisk reflexes Abnormality of the heme Midline notch of upper alveolarfamily metabolismridge Craniofacial osteosclerosis Large carpal bones of consciousness or awareness Erythroid hypoplasia Autoimmune antibody positivity Premature graying of hair Buried teeth encased in Abnormality of premolar White forelock Clinical modifier Incomplete penetrance Proximal Cystic renal dysplasia Gonadal dysgenesismuscles with female Jaw hyporeflexia scapulae Lumbar kyphosisSevere in periodontitis infancy J-shaped sella turcica Narrow iliac wings pheochromocytoma) Motor axonal neuropathy Flat posteriorAbsent fossa in utero ossificationSolitary of renal cyst Widened subarachnoid space biosynthetic pathway Abnormal cartilage morphology Optic nerve compression Atypical scarring of skin Scapular aplasiaHypoplastic scapulae Loss of eyelashesmucopolysaccharide Absent mesencephalon Cerebral dysmyelinationDelayed CNS myelination Aplasia/HypoplasiaBasal involving ganglia the gliosis AbnormalDegeneration motor of neuron anterior morphology horn cells Fatigable weakness Aplasia/Hypoplasia of the cochlea Increased serum iduronate sulfataseProgressive alveolar ridge hypertropy Capillary hemangiomas Aplastic Macularanemia hole Penetrating foot ulcers Nevus sebaceous Melanin pigment aggregation in hair Abnormality of molar Phenotypic variability Paroxysmal choreoathetosis vertebralThinning bodies and bulging of the Histiocytosis Hyperreflexia in upper limbs appearance, male Prolonged bleeding following Agenesis of pulmonary vessels Epidermal nevus Increased female libido Increased hematocrit Small posterior fossa central nervous system Elevated urinary delta-aminolevulinic activity Cephalohematoma Fibrous dysplasia of the bones Spinal cord lesion Abnormality of the clavicle Blepharospasm Gingival overgrowth shafts Periapical radiolucency Abnormal EKG EMG: decremental response of EMG: slow motor conduction posterior fossa bones Vulval varicose vein Lower limb hyperreflexia Generalized hyperreflexia Fulminant hepatic failure Broad alveolar ridges Episodic flaccid weakness procedureAbnormal respiratory epitheliumAbnormality of the pulmonary Nevus Increased corneal curvature Absent eyebrow Dental crowding Basilar invagination Renal corticomedullary cysts Substantia Corticalnigra gliosis nephrocalcinosis AbnormalityDecreased urine of urinary alpha-ketoglutarate uric acid acid Laryngeal edema Facial palsy Skin dimple over apex of long bone Focal autonomic seizures with Antineutrophil antibody positivity Dysplastic iliac wings Generalized hypopigmentation of Spatial pattern compound muscle action potential Chronic axonal neuropathy Increased cerebralAbnormality lipofuscin of the posterior cranial Ketoacidosis Pulmonary situs inversus Hemothorax Libman-SacksNeoplasm lesionsPulmonary of the larynx lymphangiectasia Weakness of orbicularis oculi muscle Intercrural pterygium Axillary pterygia morphologyAbnormal trabecularvasculature bone Diplomyelia Focal autonomic seizures AbnormallyBitemporal folded forceps helix marks Abnormality of the pericardium Abnormality of hair pigmentation Fair hair Mulberry molar Multiple small medullary renal cysts Defective dehydrogenation of concentrationconcentration Absent septum pellucidum Narrow palm Pelvic girdle muscle atrophy Medial widening of clavicles Disharmoniousangulation carpal bone Skin dimples Abnormality of sarcosine metabolism Thoracolumbar scoliosis EEG with periodic lateralized Variable expressivity Distal to repetitive nerve stimulation fossa Transient ischemic attack Abnormality of the breast Cavum septum pellucidum Absent internal auditory canal Broad palm AbnormalityLaryngeal stenosisof the sublingual glands Retinal telangiectasia Plaque-like facial hemangioma ChorioretinopathyChondritis Prolonged bleeding after dental Lateral clavicleFocal hook seizures altered responsiveness Decreased corneal thickness hair Obliteration of the pulp chamber Vertical clivus CNS hypomyelination isovaleryl CoA and butyryl CoA Gordon reflex Myelofibrosis morphology Macular scarring Lacrimal gland hypoplasia Irregular dentition Generalized hypotrichosis epileptiform discharges EMG: incremental response of Renal tubular acidosis Multicystic kidney dysplasiaRenal cortical atrophy 3-Methylglutaric aciduria Episodic hypersomnia Neoplasm of the lipUpper motorChronic neuronNeovascularization hepatic dysfunction failure of peripheral and extraction High iliac wingsCompensatory scoliosis Prolonged QRS complex Basilar impression Bilateral renal atrophy Cerebellar hemorrhage MultipleIncreased pterygia skull ossification Abnormality of the thorax Periorbital wrinkles Lumbar kyphoscoliosis Prolonged PR interval compound muscle action potential Hyperactive deep tendon reflexes Cataplexy Congenital muscular torticollis posterior retina Abnormality of the alveolarNeoplasm ridges of the ceruminal gland Bilateral elbow dislocationsNevus flammeus Progressive macular scarring Blue nevus Keloids Abnormality of the hair Abnormality of the heart valves Prominent eyelashes Poliosis Pulp stones Position Increased susceptibility to Abnormality of the clivus Unilateral renal atrophyCarotid artery stenosis Central nervous system Stroke Abnormality of the lung Pressure ulcer Atypical nevi in non-sun exposed Abnormality of the atrioventricular Irregularly spaced teeth to repetitive nerve stimulation Mandibular condyle aplasia Pulmonary situs ambiguus Abnormality of the salivary glands Cranial nerve VI palsyProlonged bleeding after surgeryAbnormality of the optic nerve High posterior hairline Nodular changes affecting the Corneal opacity BridgedElongated sella sellaturcica turcica Abnormality of the eyelashesAbnormality of the teeth Abnormality of the dental pulp EEG with parietal focal spike waves Localized Bradycardia spontaneous sister chromatidDistal renal tubular acidosis degeneration Hypohidrosis Hypohidrosis or hyperhidrosis BulbarSubdural signs hemorrhageAtrophy of the spinalLimb cord fasciculations Slow pupillary light response Bone marrow hypocellularity Cranial nerve compression areas Premature skin wrinkling ProminentErythroid corneal hyperplasia nerve fibers Generalized periodontitis valves Patchy hypopigmentation of hair Prolonged QT interval EMG: impaired neuromuscular Abnormal basal ganglia MRI signal Renal cortical cysts GliosisRecurrent cerebral hemorrhage Aciduria Absent ossification of the trapezium Aplasia/Hypoplasia of the clavicles Broad carpal bones Periorbital fullness Hypotrichosis of the scalp Hypoplasia of the primary teeth exchange Short mandibular condyles Antecubital pterygium Choroidoretinal degeneration Calcification of ribs Atypical nevi (>5mm with irregular Shoulder dimples eyelids Keratoconus Curly eyelashes Premature loss of teeth Widely spaced primary teeth Abnormality of permanent molar Progressive choreoathetosis Widened posterior fossa intensity Abnormal upper motor neuron Septo-optic dysplasia Palmoplantar cutis gyrata Pulmonary arteriovenousPulmonary capillaryFacial midline hemangioma Chorioretinitis Chorioretinal lacunae Intercostal muscleIncreased weakness pulmonary vascular Constricted iliac wings Malformation of mandibular premolar EEG with focal epileptiform EMG: Positive sharp waves transmission Gynecomastia IncreasedWidenedIncreased urinarycerebral sulfateurine subarachnoid alpha-ketoglutarate Hyperreflexia Polysplenia Triplomyelia edge and pigmentation) Sclerocornea Trichodysplasia Prolonged QTc interval EMG: neuropathic changes Atrophy/Degeneration affecting the Ischemic strokeMicroscopic nephrocalcinosis morphology Pulmonary situs ambiguus with Absent styloidPorphyrinuria process of ulna PalmarPseudobulbar hyperhidrosis paralysis Abnormality of facialHemoptysis musculature malformation resistance Skin nodule Antinuclear antibody positivity Corneal erosion morphology Abnormality of dentin discharges Intralobar nephrogenic rest spaceconcentration Cerebral Fatigablehemorrhage weakness of respiratory Palmoplantar hyperhidrosis Mandibular osteomyelitisAbnormality of the submandibular Neck flexor weakness hemangiomatosisAccessory spleen Abnormality of tryptophan Aplasia of the Eustachian tube Facial wrinkling Trichiasis Misalignment of teeth ShortenedShortened QT interval PR interval EMG: chronic denervation signs Folate-dependent fragile site at Xq28 Leukodystrophy brainstem Exercise-induced myoglobinuria Hyperreflexiabilateral proximally morphologic left lungs Abnormal distribution of retinal Abnormality of tyrosine metabolism Abnormal cartilageType collagen 1 collagen overmodification Hydromyelia Abnormality of the scalp hair Abnormal gallbladder physiology OpacificationShoe-shaped of the corneal sella turcica Flat sella turcica Flared iliac wings Lumbar scoliosis HypotrichosisShort curly eyelashes Premature loss of permanent teethAbnormality of the incisor Hemihypsarrhythmia EEG with occipital focal spike waves EMG: myotonic discharges glands Chronic lung disease Cystoid macular edemametabolism Sinus bradycardia EMG abnormality Decreased urinary sulfate Widened cerebellar subarachnoidPartial absence of the septum muscles Abnormality of intracranial pressure arterioles and venules Fatal liver failure in infancy Megaloblastic bone marrow Diastomatomyelia Mesomelia Midclavicular aplasia epithelium Mosaic centralPericardial corneal lymphangiectasiadystrophy Focal epileptiform discharges with Proximal renal tubular acidosis Nephronophthisis Long styloid process of ulna Multiple digitalVascular exostoses skin abnormality Severe carpal ossification delayPeripheral pulmonary vessel aplasia Marcus Gunn pupilSevere limb shortening Dermal translucency Lichenification Overbite Dental malocclusion Generalized distal tubular acidosis Hypoplasia Medullaryof olfactory nephrocalcinosis tract Abnormal macrophage count Increased urinary porphobilinogenProminent styloid process of ulna AbnormalityOptic nerve of the hypoplasia skull base Retinal detachment Visceral angiomatosis Cholesteatoma Wide hamate bone Deformed sella turcica Increased prevalence of valvular limited propagation to contralateral Mandibular condyle hypoplasia Aplasia/HypoplasiaBreast hypertrophy of the pyramidal space pellucidum Diffuse telangiectasia Dislocated radial head CalcificationHypoplastic of pulmonary cartilage veins Gallbladder dysfunction Acetylcholine receptor antibody Short eyelashes Increased jitter at single fibre EMG Bicarbonate-wasting renal tubular Gonadal dysgenesis,Abnormality male of cells of the Pulmonary embolism Multiple long-bone exostoses Post-partum hemorrhageNevus flammeus of the forehead Slow-growing scalp hair Lacrimal gland aplasia Smooth muscle antibody positivityPericardial constriction Ectopic cilia of eyelid Progressive hypotrichosis Abnormality of molar morphology hemisphereDagger-shaped pulp calcifications Nephrolithiasis Abnormality of the oligodendroglia Hypoplastic radial head Broad clavicles Keratoglobus disease Premature loss of primary teeth EEG with focal spike waves EKG: T-wave abnormalities J wave Choreoathetosis Dandy-Walkeracidosis malformationCerebralAbnormality hypomyelination of hindbrain morphology tract Renal hypoplasia/aplasia Cerebral vasculitis granulocytic lineage Abnormality of the plantar skin of Weakness of facial musculature Prolonged bleedingRadial head following subluxation Amyelia positivity Multiple rows of eyelashes EEG with central focal spike waves Left Aplasia/Hypoplasia of the brainstem RecurrentNasal speech myoglobinuria Palmoplantar cutis laxa Osteosclerosis of the base of the Scarring alopecia of scalp Abnormality of premolar morphology EEG with occipital sharp waves Single fiber EMG abnormality Abnormality of the corticospinal tract Abnormality of the voiceAnencephaly Abnormal dermatoglyphics Aplasia/Hypoplasiafoot of the inner ear Premature rupture of membranes Nevus flammeus nuchae Aplasia/Hypoplasia of the macula Photophobia Slow-growing hair Bilateral multifocal epileptiform Abnormal ST segment Sudanophilic leukodystrophy Delayed myelination Dysfunction of lateral corticospinal skull Chorioretinal dystrophycircumcision RoughAbnormal bone trabeculation rib ossification Macular hypoplasiaAbnormality of the posteriorChest pain hairline Abnormality of skin morphology Double outlet right ventricle Laterality Abnormal electrophysiology of EMG: axonal abnormality EMG: continuous motor unit activity Abnormality of the carotidGalactorrhea arteries Retinal vascular malformation Redundant skinTelangiectasia macularis eruptiva Abnormal bone ossification Naevus flammeus of the eyelid Dry skin discharges Increased extraneuronal Renal cortical microcysts PulmonaryDecreased situs intracranial ambiguus withpressure Pulmonary granulomatosis Supernumerary bonesThin clavicles of the axial Aplastic clavicles Calcium channel antibody positivity Absent inner dynein arms Taurodontia Polymorphic focal epileptiform T-wave alternans at rest Weak cry tracts Atrophy of alveolar ridges perstans Aplasia/Hypoplasia involvingAbnormality bones of the scalp Long claviclesShort thorax Anemic pallor Cyanotic episode Absent inner and outer dynein arms Hypopigmentation of hair EEG with centrotemporal focal spike sinoatrial node origin EMG: Repetitive nerve stimulationLabial hypoplasia Struvite nephrolithiasis Elevated brain lactate level by MRS Hypertrophy of skin of soles Torticollis Syringomyelia Multifocal epileptiform discharges Metachromatic leukodystrophy autofluorescent lipopigmentPeripheral axonal degenerationAbnormal renal corticomedullary Mucinous histiocytosis Abnormal metabolic brainbilateral imaging morphologic right lungs Cervical spinal cord atrophy Increased retinal vascularity Emphysema AtelectasisDiffuseAlveolar reticular proteinosis or finely nodular Growth delay Cutis marmorata of the skull skeleton Hyperprolinemia Abnormal hair quantity Abnormality of lower eyelashes Three rows of eyelashes Abnormality of primary teeth EEG with frontal sharp waves Focal EEG dischargesdischarges with abnormality Dysmyelinating leukodystrophy Increased neuronal autofluorescent HypoplasticShort areolamandibular rami Decreased urinary urate Hypoplastic spleenFlattened radial head Excessive wrinkling of palmar skin Abnormal sternal ossification Optic nerve dysplasia Acromesomelia Pallor Aortic valve calcification Abnormality of upper eyelashes Overjet Focal EEG discharges with waves differentiation by MRS LaryngealPulmonary carcinoma venoocclusivePeripheral disease retinal detachment infiltrations Unilateral facial palsy Ornithinuria Aplasia/Hypoplasia involving bones Megaloblastic erythroid hyperplasia Muscle specific kinase antibody Long eyelashes Misalignment of incisors secondary generalization Bilateral Hypoglycemic encephalopathyCongenital encephalopathy variant Hoarse voice (caused lipopigmentby tumor Cerebellar calcifications Macroglossia Facial paralysis Straight clavicles Absent hair Short upper eyelashes Anterior open-bite malocclusion Encephalopathy T2 hypointense basal ganglia Hoarse voice Abnormality of the vena cavaPerivascular spaces Increased erythrocyte Hypersensitivity pneumonitis Bronchogenic cyst of the thorax positivity Abnormality of corneal endothelium Punctate corneal epithelialRecurrent erosions corneal erosions propagation to ipsilateral impingement) Corticospinal tract pallor Mandibular aplasia Unilateral primary pulmonary Excessive wrinkled skin Undulate clavicles Subcutaneous nodule Kayser-Fleischer ring Antimitochondrial antibody positivity Abnormality of hair growth rate EEG with frontal focal spike waves ST segment elevation Cerebellar cyst Abnormality of urine catecholamine Cat cry Hyperhidrosis Calvarial osteosclerosis Stiff skin Abnormality of epidermal Flexural lichenificationCyanosis Long lower eyelashes hemisphere Unilateral multifocal epileptiform Hepatic encephalopathy HypoplasiaXanthine of the nephrolithiasis brainstem Paucity of anterior hornIncreased motor urinary urate protoporphyrinIncreased intracranial concentration pressure Exudative retinal detachment Oral cavity bleeding GeneralizedRenal aminoaciduria Paraparesis Shortened inner dyneinShortened arms outer dynein arms Map-dot-fingerprint corneal EKG: T-wave inversion Mitochondrial encephalopathyChromsome breakageOlivary degeneration Extracranial internal carotid artery Atrophy/Degeneration involvingAsymmetry the concentrationof the breasts Myelin-dependent gliosis Pneumothorax dysgenesis Facial diplegia Abnormal cartilage matrix Paraplegia Alopecia of scalp morphology Pericarditis Distichiasis Abnormality of primary molar Decreased sweating due to Abnormality of body height Lung segmentation defects Abnormal deliveryFacial capillary hemangioma Polyostotic fibrous dysplasia Tryptophanuria Abnormality of homocysteineAbnormal gallbladder Hyperhomocystinemia morphology Constrictive pericarditis dystrophy Diastema discharges Acute necrotizingChronic hepatic encephalopathy encephalopathy dissection corticospinal tracts Abnormality of cerebral veins Abnormality of the face Mesomelic arm shortening Short lower eyelashes morphology Open bite EEG with focal sharp waves EEG with temporal focal spike waves Recurrent encephalopathy autonomic dysfunction Antenatal intracerebral hemorrhage Clonus Abnormal plantar dermatoglyphics Asplenia MonostoticNon-pruritic fibrous dysplasia urticaria Costal cartilage calcification metabolism Elevated intracellular cystine Cleft at the superior portion of the Rheumatoid factor positiveAntiphospholipid antibody positivity Juvenile epithelial corneal dystrophy Frontal open bite Right Acute encephalopathy Increased carotid artery intimal Hyponasal speech Interdigital loops Thick skull base Aplasia of the inner ear Anterior rib punctate calcifications Cholecystitis Platelet antibody positive Acantholysis ST segment depression Abnormality of the medullaAbnormality of brainstemFocal T2 hypointense basalFocal gangliaT2 hyperintenseHoarse cry basal ganglia Aplasia/Hypoplasia involving the Tall stature Reduction of oligodendroglia Palmar telangiectasia Rhegmatogenous retinal detachment Hypertonia Proximal radial head dislocation pinna Darwin notch of helix Absent/shortened dynein armsAbnormality of secondaryAbsent sexual outer hair dyneinAbsent/shortened arms outer dynein arms Molarization of premolar Necrotizing encephalopathyProgressive encephalopathy medialAnomalous thickness branches of internal Cerebellar hemangioblastoma Pulmonary fibrosis Hypertyrosinemia Oral synechia Rib exostoses Subepithelial corneal opacities Imperforate atrioventricular valve oblongata morphology lesion lesion Hemiballismus corticospinal tractsLoss of voice Stroke-like episodes Abnormality of male internal genitalia Short clavicles Poikiloderma Double outlet right ventricle with Dentinogenesis imperfecta EEG with focal sharp slow waves T-wave inversion in the right Axonal degeneration/regeneration Hypouricemia Abnormal synaptic transmission Urinary glycosaminoglycan excretion Convex contour of sole Hypoplasia of facial musculature SubcutaneousAnterolateral hemorrhage radial head dislocation Optic neuritis Nonketotic hyperglycinemia Unilateral Sinus tachycardia carotid artery Repeated pneumothoraces Arteriovenous fistula Abnormality of the macula Abnormality of proline metabolism Pericardial effusionsubpulmonaryAbnormality ventricular of septal hair density Nonprogressive encephalopathy Weak voice Episodic hyperhidrosis Vasculitis Morphological abnormality of the Double outlet right ventricle with Absent axillary hair precordial leads Peripheral arterial disease Abnormality of glycosaminoglycan Fibrous syngnathia Fused sternal ossification centers Retrobulbar optic neuritis Hypoplastic superior helix defect and pulmonary stenosis Long upper eyelashesLong eyelashes in irregular rows Crowded maxillary incisors Uni- and bilateral multifocal EEG with occipital sharp slow waves Infantile encephalopathy Brainstem dysplasia Micrognathia TriangularElevated tongue imprint of the transverse Cutis laxamiddle ear Double outlet right ventricle with Alopecia universalis Anterior open bite Sinoatrial block Aplasia/Hypoplasia of the optic tract Abnormality of muscle physiology Knee clonus AbnormalityAmyotrophy of the of mediastinumthe musculaturemetabolism of Redundant skin in infancy Large sternal Increasedossification urinary centers taurine Excessive skin wrinkling Hydroxyprolinuriaon dorsum doubly committed ventricular septal Rotated maxillary centralMicrodontia incisors of primary teeth epileptiform discharges Speech articulation difficulties sinuses Retinal cavernous angioma Pulmonary infiltratesVasculitis in the skin Halitosis Aminoaciduria Hydroxyprolinemia Abnormality of the axillary hair Sparse or absent eyelashes Abnormally low-pitched voice Abnormal vascular physiologyBronchopulmonary sequestration Trichilemmoma Congenital chorioretinal dystrophy Sparse bone trabeculae of hands and fingers Homocystinuria defect and pulmonarysubaortic stenosis ventricular septal defect Abnormal spaced incisors Abnormality of the dental root Occlusive arterial disease Epileptic encephalopathy Aplasia/Hypoplasia of the breasts ReducedHigh pitched brain N-acetyl voice aspartate Proportionate tall stature Abnormal lungMultiple lobation plantarthe pelvis creases Aplasia/Hypoplasia of the mandible Bone cyst Cystathioninemia Abnormality of glycine metabolism Double outlet right ventricle with Alopecia Abnormality of dental morphology MetabolicAplasia ketoacidosis of the pyramidal tract Dysplastic granulopoesis ObstructiveCaesarian lung diseasesectionPlantar pits Anterior radial head dislocation Hypoargininemia Hyperlysinemia Periarticular subcutaneous nodules and pulmonary stenosisAbnormal hair laboratory Absent pubic hair EEG with parietal sharp waves Abnormal brainstem MRI signal level by MRS Prolinuria Abnormality ofAbnormality threonine metabolism of sulfur amino acid Hypermethioninemia Dynein arm defect of respiratory non-committed ventricular septal Progressive alopecia EEG with frontal sharp slow waves Brain stem compression Uric acid nephrolithiasis Elevated brain choline level by MRS Retinal nonattachment CraniofacialMidface dystonia capillary hemangioma Chorioretinal hypopigmentation or Xanthomatosis HyperglycinuriaHyperthreoninemia examination Focal T2 hyperintense brainstem intensity Degeneration of the lateral Abnormal brain choline/creatine Parathyroid dysgenesis FrontalisExostosis muscle weakness of the external auditory Abnormal respiratory motileAbnormality cilium of methionine Central corneal dystrophy defect without pulmonary stenosis Sparse upper eyelashes Rootless teeth Shell teeth Sick sinus syndrome Chromosomal breakage induced by Arrhinencephaly ElbowRenal clonus agenesis hyperpigmentation Osteosclerosis of Cystathioninuriaribs Cystinuria metabolism Cleft helix motile cilia Absent facial hair EEG with central sharp waves EEG with central sharp slow waves lesion Hypoplasia of the pyramidal tract Interrupted inferior vena cava with ratio by MRS Redundant skin on fingers canal Restrictive lung disease Ulnar radial head dislocation Abnormalitymorphology of the sella turcicametabolism Abnormal blistering of the skin Persistence of primary teeth Profound static encephalopathyOcclusive vascular disease crosslinking agents EMG: myokymiccorticospinal discharges tracts Infra-aortic superior vena cava Organic aciduria Abnormality ofPseudobulbar taste sensation signs Midfrontal capillary hemangioma Weakness of muscles of respiration Double outlet right ventricle with Sparse lower eyelashes Widely-spaced incisorsEEG with abnormally slow Arterial disease of legs Abnormality of the labia Peripheral axonal atrophy Carotid artery aneurysm azygous continuation Easy fatigability Spontaneous pneumothoraxHemimacroglossia Tractional retinal detachment Posterior subluxationDecreased of radial number head of sternal HyperthreoninuriaCherry red spot of the macula Hyperhistidinemia Hyperglycinemia Double outlet right ventricle with Reduced number of corneal Dentinogenesis imperfecta limited to Abnormal palmar dermatoglyphicsCorticospinal tract hypoplasia Hydranencephaly Shoulder dystocia Erythema Elevated urinary aminoisobutyric Optic neuropathy Abnormality of the pubic hair Imperforate tricuspid valve frequencies EEG with parietal sharp slow waves Premature occlusive vascular Internal carotid artery hypoplasiaCarotid artery occlusion Varicose veins Disproportionate tall stature Cleft in skull base Cystic lung disease Pulmonary arteriovenous ossification centers Abnormality of lysine metabolism Acrocyanosis non-committeddoubly ventricular committed septal ventricular septal primary teeth Decreased urinary catecholamine Spontaneous neonatal Microretrognathia Intralobar sequestrationComplex organic aciduria Forceps delivery Abnormality of skull ossification acid Epiretinal membrane Abnormality of serum aminoLarge acid sella turcica endothelial cells disease Enlarged brainstem Intellectual disability,Axonal moderate loss Nuchal cord Posterior radial head dislocation Histidinuria Mesomelic leg shortening Double outlet right ventricledefect with and pulmonarydefect without stenosis pulmonary Abnormal stenosis hair pattern Abnormal migration of corneal Delayed eruption of primary teeth EEG with temporal sharp slow waves Chromosomal breakage induced by concentration Renal hypoplasia pneumothorax Abnormality of the lymph nodesVenous abnormality Aplasia/Hypoplasia of the lungs Abnormality of arginine metabolismAbnormality ofAbnormality aspartate familyof cysteine metabolism levels Posterior helix pit Hyposerinemia Thick hair EEG with temporal sharp waves Peripheral vascular insufficiency Breast aplasia Absence of renal corticomedullary Muscle hyperirritability ArteriovenousLarge vessel fistulas vasculitis of celiac and Midline facial capillary hemangioma Bruising susceptibility Hyperlysinuria Hypoglycinemia Periorbital hyperpigmentation subaorticDouble ventricular outlet septal right ventricledefect with endothelium Kinked brainstem Retrocerebellar cyst Hypoplasia of the optic tract Central hypotonia Jaw claudication aminoHyperbetaalaninemia acid metabolism Reduced maximal expiratory Small sella turcica Sparse eyelashes Dentinogenesis imperfecta of T2 hypointense brainstem ionizing radiation differentiation Adermatoglyphia Multiple bilateral pneumothoraces Abnormality of the skull Transient aminoaciduria Abnormality of histidineAbsent metabolism sternal ossification without pulmonary stenosis Short dental roots Persistent left superior vena cava Aplasia of the optic tract mesenteric vessels Neoplasm of the tongue Aplasia/Hypoplasia of the middle ear Petechiae Abnormality of oral mucosa pressure Opacification of the corneal stroma subpulmonary ventricular septal primary and permanent teeth EEG with focal spikes Peripheral arterial stenosis Reduced renal corticomedullary Abnormal osteoclast count Abnormality of acid-base Peripheral arteriovenous fistula Skin pit Angiokeratoma Diaminoaciduria Oral mucosalSulfite blisters oxidase deficiency Junctional split Hyperpigmentation of eyelids Alopecia totalis Premature peripheral vascular Intellectual disability, mild Abnormality of orotic acid Hyperoxaluria Inflammatory arteriopathyPlantar telangiectasia Carnosinuria ArgininuriaScalp tenderness Thin ear helix Progressive spastic paraparesis defect without pulmonary stenosis Hair shafts flattened at irregular Microdontia Left superior vena cava draining differentiation homeostasis Deep plantar creases Retrognathia Aplasia/HypoplasiaVentouse delivery of the ear Abnormally lax or hyperextensibleAbnormality of amino acid Abnormality Abnormalityof pyruvate familyof glutamine family Hypoplastic helices disease Left superior vena cava draining to Cerebral inclusion bodies metabolism Transient pulmonary infiltrates Abnormality of the oral cavity Choroidal neovascularization of the Cystic artery pseudoaneurysmAplasia/Hypoplasia of the fovea RespiratoryPointed helix paralysisHypomethioninemiaAbnormality of the rib cage intervals and twisted through 180 Focal T2 hypointense brainstem Choreadirectly to the left atrium Increased muscleCerebral fatiguability venous angiomaNight sweats Dysphonia Nodular inflammatory vasculitis Dibasicaminoaciduriaskin amino acid metabolismamino acid metabolism GallbladderReduced perforation maximal inspiratory Discontinuous ascending root of Pili torti Heart block Hypoplastic labia minora coronary sinus Complex palmar dermatoglyphic Fasciculations Chronic obstructive airway diseaseOromandibular dystonia Macularmetabolism schisis DrusenOptic atrophy from cranial nerve Thoracic hypoplasia degrees about their axes Patchy alopecia Calcium nephrolithiasis Intellectual disability, profound Axonal degeneration Corticospinal tract atrophy Tetany Abnormality of central motor function Chronic obstructive pulmonary Prominent scalp veins Progressivemacula calcification of Absent central microtubular pairpressure helix Abnormality of serine metabolism Congenital alopecia totalis EEG with temporal focal spikes lesion Internal carotid artery dissection pattern Abnormal synaptic transmissionUnilateral at renal hypoplasia Retrocollis from birth Urticaria compression AbnormalAbnormality Abnormalityaxonemal of organizationalanine of glutamine metabolism of metabolism Hemopericardium Sparse axillary hair Alopecia areata Macrodontia EEG with multifocal slow activity Hypoplastic labia majora FacialVenous myokymia insufficiency Ectopic parathyroid disease Congenital facial diplegia Vitelliform maculopathy morphology of respiratory motile Sparse scalp hair Serous pericardial effusion Double tooth Widely-spaced maxillary central Multiple palmar creases the neuromuscular junction Extralobar sequestration Short stature Abnormality of the tympanic costochondral cartilage respiratory motile cilia Hyperglutaminemia Trichorrhexis nodosa Abnormality of the tricuspidAbsent valve eyelashes Abnormality of dental eruption Carotid artery dissection Hyperextensible skin Abnormal intramembranousNeutral hyperaminoaciduria Spastic paraparesisMidclavicular hypoplasiaDecreased methionine synthase Chylopericardium incisors Cerebellar gliosis Birth length greater than 97th Recurrent mandibularAbnormalitySmall subluxations vessel of vasculitis carboxylicAbnormality acid of the mandible membraneSpontaneous hematomas Aneurysmal bone cyst cilia Abnormality of serine family amino Olfactory Auras Generalized microdontia Abnormal maleDermatoglyphic germ cell variants Increased dermatoglyphic whorls GiantBilateral cell granuloma trilobed Abnormal oflungs mandible upper to lower segment Prominent superficial blood vessels ossification Abnormal elasticity of skin activity Sparse hair MicrocephalyAbnormality of Abnormalcentral motor number percentileof granulocyte metabolism Persistent stapedial artery Unicameral bone cyst Abnormality of complement system acid metabolism Squared superior portionLow ofserum helix calcitriol Polymorphous posterior corneal morphology Axonal regeneration Rosenthal fibres Abnormality of leucine metabolism ratio Chorioretinal hyperpigmentation Macular flecks Nonarteritic anterior ischemic optic Bilobate gallbladder Abnormality of Descemet's EEG with series of focal spikes conduction precursors Narrow jaw Temporal displacement of maculae Abnormal central microtubular pair (1,25-dihydroxycholecalciferol) dystrophy Abnormality of incisor morphology EEG with frontal focal spikes Bilateral superior venaAbnormal cavaIntellectual with palmar disability, dermalIntellectual ridges progressive disability, borderline Bilateral renal hypoplasia Decreased taste sensation Focal hyperextensible skin neuropathy Atheroeruptive xanthoma Abnormality of the hairline membrane Conical tooth Deep palmar crease Abnormal atrioventricular conduction Palatal myoclonus Breast hypoplasia Absent right superior vena cava Delayed peripheral myelination Hypersomnia Punctate vasculitis skin lesions Asymmetric short stature Chorioretinal atrophy morphology of respiratory motile Progressive spastic paraplegia Deformed rib cage Pili canaliculiSparse pubic hair Acquired abnormal hair pattern Tricuspid regurgitation EEG with occipital focal spikes bridging vein Frontal venous angioma Multiple trichilemmomata Spastic paraplegia Auras Maxillary lateral incisor microdontia Hemifacial spasm Calcium oxalate nephrolithiasis BilateralAbnormality lung agenesis of the larynx Purpura Primary amenorrhea Oral ulcer Abnormality of vitamin metabolism cilia Corneal crystals EEG with focal slow activity DermatoglyphicProminent ridges interdigital abnormal folds Orotic acid crystalluria Absence of lymphAldehyde node oxidase germinal deficiency SpasticityBirth length of facial less muscles than 3rd percentile Craniofacial hyperostosis Multiple bony cystic lesions Aplasia of the fovea Absent upper eyelashes Small, conical teeth Index finger dermatoglyphic radial Intellectual disability, severeIntellectual disability Medium chain dicarboxylic aciduria Dense calcifications in the cerebellar Bilateral renal agenesis Single trichilemmoma Abnormality of the temporalFacial bone erythema Congenital giant melanocytic nevus Central opacification of the cornea Psychic auras Atrophic, patchy alopecia Early balding Abnormality of the palmar creases Unusual dermatoglyphics Abnormality ofUric the acid brainstem urolithiasis white independent of Aplasia/Hypoplasia of the cerebellum center Fibrocystic lung diseaseIntermittent claudication Abnormality of the sternum Delayed eruption of teeth Fused teeth loop Hirano bodies dentate nucleus Parathyroid agenesis Facial cleft CongenitalAplasia/Hypoplasia microthoraxAtrophic of scarsthe sternum Cyst of the eyelid Vitamin D deficiency EEG with parietalEEG focal with spikescentral focal spikes matter gout 3-hydroxydicarboxylic aciduria Myalgia Hyperextensible skin of face Spontaneous abortion Craniofacial dysostosis Eruptive xanthomas Abnormal hemoglobin Abnormality of the aortic valve Cortical myoclonus High axial triradius Myokymia Deep longitudinalPulmonary plantar sequestration crease Pulmonary hypoplasia Oral cavity teleangiectasia EnanthemaPropionyl-CoA carboxylase Bull's eye maculopathy Low serum calcifediol Scalp hair loss Spinal myoclonus Abnormal peripheral nervous system Unilateral renal agenesis CongenitalVenous cystic malformation adenomatoid Prominent superficial veins Oral leukoplakia AbnormalityThickened of vitamin helices A metabolismDarwin tubercle of helix Melanocytic nevus Hirsutism Single transverse palmar crease Sydney crease Abnormality of the labia majora Bilateral superior vena cava with no Methylmalonic aciduria Prolonged miniature endplate Abnormality of creatine metabolism Abnormality of citrulline metabolism Xanthelasma Thoracic dysplasia (25-hydroxycholecalciferol) Vegetative auras Visual auras Ebstein's anomaly of the tricuspid Talon cusp Myoclonic spasms Ethylmalonic aciduria DicarboxylicVenous varicosities aciduria of celiac and Progressive microcephaly Abnormal muscle tone Dysarthria Capillary malformationleak of the lung ChorioretinalAbnormality hypopigmentation of the occipital bone deficiency Abnormality of macular pigmentationAbsent respiratory ciliarySupernumerary axoneme ribs Abnormal facility in opposing the Auditory auras Hypoplastic tricuspid valve Increased sarcoplasmic glycogen Bilateral breast hypoplasiaAbnormality of the nipple bridging vein Lafora bodies currents synaptic transmission Abnormal vas deferens morphology Reduced upper to lower segment Angiokeratoma corporis diffusum Secondary amenorrhea HyperalaninemiaLongAbnormality hairs growing of vitamin from helixD metabolism of Bell-shaped thorax All valve Gemination Prominent palmarBridged flexion palmar creases crease mesentericDecreased vessels osteoclast Facial-lingual count fasciculationsMuscle fibrillation Hyperleucinemia Hypomimic face Restrictive respiratory insufficiency Localized skin lesion shoulders Tetralogy of Fallot Tricuspid stenosis Screwdriver-shapedShovel-shaped incisors maxillary central Myoclonus Calcium phosphate nephrolithiasis Abnormality of the metencephalon Exercise-induced muscle fatigue Mediastinal lymphadenopathy Peripheral traction retinal Hamartoma of tongue Cystic angiomatosis of bone Hyperornithinemia radial spokes pinna Sparse body hair Incisor macrodontia Elevated ratiourinary homovanillic acid Abnormality of vitamin E metabolism Peripheral opacification of the Albinism Tricuspid valve prolapse incisors Morning myoclonic jerks Acidosis Oroticaciduria Obtuse angle of mandibledetachment Abnormal pigmentation of the oral Abnormality of vitamin K metabolism Generalized hirsutism Absent lower eyelashes Intermittent painful muscle spasms Ubiquitin-positive cerebral inclusion Granulocytic hypoplasia Gait apraxia Dermatographic urticaria Congenital craniofacial dysostosis Narrow chest Projection of scalp hair onto lateral cornea Epigastric auras Congenital abnormal hair pattern Aplasia/Hypoplasia of the palmar Clusters of axonal regeneration Agyrophilic inclusion bodies Lymphadenitis Abnormality of facial skeleton Disproportionate short-trunkStomatitis short Bulgingmucosa of the costochondral Low plasmaHypoplasia citrulline of the fovea Asymmetry of the thorax Enlarged thorax Temporal hypotrichosis Tricuspid Absentatresia inner eyelashes Intracranial internal carotid artery Involuntary movements bodies Tongue fasciculations Parathyroid hypoplasia Increased number of skin folds Abnormality of the fovea Respiratory insufficiency due to cheek Generalized opacification of the Shield chest Gustatory auras Sparse facial hair Corneal guttata Notched primary central incisor Decreased muscle glycogen content creases Low-set nipples Long-chain dicarboxylic aciduria Congenital microcephaly Plantar crease between first and stature Abnormality of the costochondraljunction Unilateral chest hypoplasia Prominent nipples Abnormality of the pons dissection Increased upperHyperextensible to lower segmentBroad skin jaw of chest Mandibulofacial dysostosis Respiratory insufficiencymuscleAbnormality weakness of the helix Crimped helix Hyperpigmented nevi and streak External carotid artery dissection Intrapulmonary sequestration second toes Interstitial pulmonary disease Pigmented paravenous chorioretinal junction cornea Descemet Membrane Folds EEG with occipital slowing Elevated urinary catecholamines Neurofibrillary tangles Trismus Midline facial cleft Abnormality ofAbnormality oral frenula of the lacrimal bone Prominent ear helix Vitamin K deficiency Functional respiratory abnormality Bilateral single transverse palmar Chin myoclonus Paroxysmal dyskinesia Metabolic acidosis L-2-hydroxyglutaric aciduria Decreased miniature endplate ratio Full cheeks Optic atrophy Lower limb spasticity Reticulate pigmentation of oral Soft skin Aortic valve atresia Discolored lateral incisorsDens in dente Glycogen accumulation in muscle Abnormality of the labia minora Unilateral breast hypoplasia Lymph node hypoplasia Asymmetry of the mandible atrophy Peripapillary chorioretinal atrophy Abnormality of ornithine metabolism Abnormality of vitamin C metabolism Increased muscle glycogen content creases Sleep myoclonus Inverted nipples Cerebral hyaline bodies potentials Laryngeal cartilage malformationAbnormality of the middle ear Laryngeal cleft Foveal hyperpigmentationmucosa Short sternum Long thorax fiber lysosomes Common carotid artery dissection Elevated urinary vanillylmandelic acid Numerous congenital melanocytic Frontal balding Centrally nucleated skeletal muscle Involuntary writhing movements Overgrowth Lacticaciduria ossicles Laryngeal obstruction DecreasedAplasia/Hypoplasia skull ossification of the maxillaMandibular hyperostosis Elevated plasma citrulline Somatosensory auras Congenital posterior occipital Short chordae tendineae of the Absent palmar crease Supernumerary nipple Cerebellar agenesis Developmental regression Budd-Chiari syndromeMandibular painCartilaginous ossification of larynx Facial hyperostosis Macular hypopigmentation Hemoglobin Barts nevi Increased anterioposterior diameter Immotile cilia Abnormality of the pulmonary valve fibers Laryngeal dystonia Abnormality of the frontal bone Abnormal respiratory motile cilium alopecia tricuspid valve Advanced eruption of teeth Ring fibers Abnormality of the Telangiectasia of the oral mucosa Nail-biting Abnormality of cytokine secretion VitaminVitamin A deficiency E deficiency Hemoglobin H of thorax Bicuspid aortic valve Delayed eruption of permanent teeth Labial hypertrophy Phenylpyruvic acidemia D-2-hydroxyglutaric aciduria Tongue telangiectasia Cranial hyperostosis RhizomeliaAbnormality of the Fovealpulmonary hypopigmentation veins Vitamin C deficiency Chalazion Hyperpigmented nevi physiology Type 1 muscle fiber atrophy Hyperplastic labia majora Abnormality of the epididymis temporomandibularAbnormality joint of skull size Abnormality of the cheeks Rachitic rosary Intra-oral hyperpigmentationPremature sternal synostosis Central posterior corneal opacity Pulmonic stenosis Absent vas deferens Laryngeal hypoplasia Epidermoid cyst Intermittent episodesAplasia/Hypoplasia of respiratory of the ribs Decreased pulmonary function Nodular calcificTetralogy aortic valve of Fallot disease with pulmonary Conical incisor Atrioventricular dissociation Cerebellar vermis hypoplasia Poorly formed metencephalon Respiratory acidosis Abnormality of dicarboxylic acid Spastic dysarthriaAbnormality of branched chain Progressive bifocal chorioretinal Recurrent aphthous stomatitis Reduced vital capacity Abnormal ciliary motility Hyperoxemia Involuntary jerking movements Propionicacidemia Functional motor problems Anteroposteriorly shortenedLaryngeal larynx cystLaryngeal web IntrauterineMidface retrusion growthDense retardation calvaria Perifollicular fibrosis insufficiency due to muscle Persistence of hemoglobin F Punctate opacification of the cornea stenosis No permanent dentition Muscle fiber splittingAutophagic vacuoles Exercise-induced myalgia Glutaric acidemia metabolism Sunkenfamily cheeks amino acid metabolism atrophy Cigarette-paper scars Respiratory insufficiency due to Macrodontia of permanent maxillary Decreased palmar creases Cerebral palsy Granulocytic hyperplasia Rigidity Anaphylactoid purpura Band keratopathy Pulmonic valve myxoma Abnormal muscle glycogen content Nasal, dysarthic speech Elevated urinary carboxylic acid Postnatal growthAbnormality retardation of ethmoid bone Facial palsy secondary to cranial Precocious menopause Skin vesicle Prominent sternumBifid sternum weakness Aortic regurgitation central incisor Abnormal intermamillary distance TeleangiectasiaLaryngeal of the atresia skin Abnormality of the optic disc Foveal dystrophy defective ciliary clearance Episodic metabolic acidosisAthetosis Hyperchloremic metabolic acidosis Self-mutilation of tongue and lips Transverse facial cleft Subglottic stenosis hyperostosis Aspiration Dysplastic aortic valve Tetralogy of Fallot with absent Bundle branch block Thickened superior cerebellar Abnormal peripheralIncreased myelination serum lactate Lewy bodies Neurodevelopmental abnormality Abnormality of the tongue Abnormality of the foramen magnum Pectus excavatumMacular hyperpigmentation Respiratory failureRespiratory arrest Nodular corneal dystrophy Multiple non-erupting secondary Abnormality of the cerebellar Glutaric aciduria due to involuntary movements Facial hypotonia Abnormality of the aryepiglottic fold Neonatal short-trunk short stature Wide-cupped costochondralFoveoschisis Abnormality of the ribs Soft, doughy skin Congenital defect of the pericardiumpulmonary valve Muscle fiber necrosis peduncle HyperchloremicExercise acidosis intolerance Paralysis Desquamative interstitial Lateral venous anomaly Aplasia of the maxilla Barrel-shaped chest Tetralogy of Fallot with absent Central core regions in muscle fibers peduncle Cerebellar hypoplasiaChronic metabolic acidosis Difficulty standing Abnormality of mucopolysaccharide Recurrent spontaneous abortion Abnormality of the midface Milia Macular retinal pigmentjunctions epithelial Lack of skin elasticity Reduced hemoglobin A Respiratory difficulties Tetralogy of Fallot with teeth Aplasia/Hypoplasia of the nipples Postnatal microcephaly BronchiolitisProgressive obliterans extrapyramidal pneumonitis ShortProminent lingual frenulum veins on trunk Spasticity Disproportionate short stature Molluscoid pseudotumors subarterial conus Dysplastic pulmonary valve Unerupted tooth Muscle fiber atrophy Short intermamillary distance Abnormality of the superior metabolism Laryngomalacia mottling atrioventricular canal defect Pulmonary valve atresia Premature eruption of permanent Conical mandibular incisor Abnormality of muscle fibers Fused labia minora Elevated urinary epinephrine Temporomandibular joint ankylosis muscular rigidity Ankyloglossia Abnormality of vomer Childhood-onset short-trunk short Cervical ribs Ciliary dyskinesia cerebellar peduncle Mixed respiratory and metabolic Lymphoid interstitial pneumonia Mandibular prognathia Asternia Breathing dysregulation Neonatal breathing dysregulation teeth Marked delay in eruptionEEG of with generalized slow activity Enlarged labia minora Absence of labia majora Hypoplasia of the ventral pons Hyperkalemic metabolic acidosis Downturned corners of mouth Laryngeal stridor stature Skin erosion Type 2 muscle fiber atrophy Muscle fiber hypertrophy Hypoplasia of the pons acidosis Neurological speech impairment Midface prominence Enlargement of the costochondralFoveal hyperplasia Abnormal blood gas level Abnormal hair whorlPulmonary valve defects permanent teeth Elevated urinary dopamine Chronic acidosis Dicarboxylic acidemia Lip telangiectasia Dilated superficial abdominalAccessory veins oral frenulum Calvarial hyperostosis Respiratory failure requiring assisted Unicuspid aortic valveHypoxemia Type 1 musclePerifascicular fiber predominance muscle fiber atrophy Hypertrophic labia minora Abnormality of the cerebellumDifficulty climbing stairs Extrapulmonary sequestrum Lymphadenopathy Bronchiolitis obliterans organizing Breech presentation Costochondraljunction pain Sparse anterior scalp hair Absence of the pulmonary valve Natal tooth Abnormality of the dentate nucleus Triangular mouth Athetoid cerebral palsy Focal dystonia Elevated plasma branched chain Abnormality of salivation Spastic diplegia Infancy onset short-trunk short IrregularAplasia/Hypoplasia chondrocostal junctions of the ventilation Corneal arcus Wide intermamillary distance Midline defect of mandible pneumonia Abnormality of the incus Abnormal facial expression Spastic tetraplegia Lethal short-trunk short stature Abnormality of interferon secretion Pulmonary insufficiency Conical primary incisor Difficulty running Alexia Abnormality of the mouth amino acids Frontomalar faciosynostosisAplasia/Hypoplasia of the premaxilla Macular degenerationstature gallbladder Progressive pulmonary function Complete diaphragmatic absence of Olivopontocerebellar hypoplasia Acute respiratory acidosis Generalized hypotonia due to defect Premaxillary Prominence Pectus carinatum Horizontal ribs Superior rib anomalies Peg-shaped maxillary lateral incisors Motheaten muscle fibers Elevated urinary norepinephrine Extrapyramidal muscular rigidity Aplasia of facialIncomplete bones ossificationSpastic tetraparesis of palatine impairment Elongated superior cerebellar Cerebellar malformation Chronic respiratory acidosis at the neuromuscular junction Mild intrauterine growth retardation Abnormality of interleukin secretionExpanded terminal portion of crus of Beaded ribs pericardium Increased endomysial connective Labial pseudohypertrophy Papillary cystadenoma of Abnormalitythe Cogwheel of rigidity the parathyroid Smooth tongue Hyperostosis frontalis interna bone Cardiorespiratory arrest Cough HypocapniaHypercapnia Conical maxillary incisor Splayed superior cerebellar pedunclepeduncle Inferior vermis hypoplasia Lactic acidosis Response to drugs acting on Decorticate rigidity Interstitial pneumonitis Abnormality of the maxilla helix Short ribs Methemoglobinemia Bicuspid pulmonary valve Abnormality of skeletal muscle fiber Depositstissue immunoreactive to Open mouth Scanning speechAbnormality of mouthepididymis shape physiology Axillary epidermoid cyst Hordeolum Increased variability in muscle fiber Type 2 muscle fiber predominanceRight bundle branch block Chronic lactic acidosis Language impairment Abnormality of monocarboxylic acid Mild postnatal growth retardation Abnormality of the palatine bone Spastic gait Defective production of Increased cup-to-disc Opticratio disc drusenRhizo-meso-acromelic limb Anomalous rib insertionMultiple torib vertebrae fractures size beta-amyloid protein neuromuscular transmission Self-mutilation Pierre-Robin sequence Glossitis Decreased cranial base ossification Skin plaqueCostochondral joint sclerosis Decreased sensitivity to hypoxemia Partial left sided absence of Frontal upsweep of hair Multiple unerupted teeth EEG with intermittent slow activity diameter Atrioventricular block Postprandial hyperlactemiaRecurrent subcortical infarctsFrequent falls metabolismEpididymitis NFKB1-dependent cytokines Mesomelic/rhizomelicRhizomelic arm shortening limbshortening Cerebellar hemisphere hypoplasia Developmental stagnation Glossoptosis Self-biting Bifid ribs pericardium Congenital atrioventricular Persistent lactic acidosis Anarthria Lip pit Tongue nodules Aplasia of the middle ear ossicles Opisthotonus Coat hanger sign of ribs Failure of eruption of permanent EEG with generalized slow activity Muscle cramps Tongue atrophy Spastic hemiparesis shortening Abnormality of skin pigmentation Giant melanosomes in melanocytes Increased muscle lipid content dissociation Trifascicular block Dysgraphia Temporomandibular joint crepitus Neonatal respiratory distress teeth EEG with continuous slow activitygrade 2 Hypoplastic nipples Atrophic superior cerebellar D-2-hydroxyglutaric acidemia Severe postnatal growth retardation Abnormality of the premaxilla Abnormality of the chin AbnormalityThin ribs of the alternateProminent floating ribs Ventilator dependence with inability Stridor Accumulation of melanosomesPartial diaphragmaticTetralogy in of Fallotabsence with of pulmonary Total absence of the pericardium Abnormal position of hair whorl Absent nipple LobulatedTelangiectases tongue producing 'marbled' Ectopic ossification Hyperostosis cranialis interna Thickened ribs Profuse pigmented skin lesions Abnormality of dermal melanosomes Complete right sided absence of Ragged-red muscle fibers peduncle Peripheral amyelination Loss of speech Abnormality of valine metabolismModerate postnatal growthAbnormality of the mastoid Skin tags complement pathway Flaring of rib cage to wean melanocytes pericardium atresia Type 1 fibers relatively smaller than Abnormality of movement Triangular-shaped open mouth Abnormality of extrapyramidalMucopolysacchariduria motor skin Sleep disturbance Crystalline corneal dystrophy Aortic valve stenosis pericardium EEG with generalized slow activity Rimmed vacuoles Enlarged cerebellum Writer's crampTelangiectases inPosteriorly sun-exposed placed andBifid tongue tongue retardation Proportionate short statureAplasia of the premaxilla Cholelithiasis Pectus excavatum of inferior Rib gap Experiential auras EEG with generalized slow activity type 2 fibers Incomprehensible speech function Pseudobulbar behavioralAbnormality symptoms of the malleusTelangiectasia of the ear Small foramen magnum HypoplasiaLarge of foramen the maxilla magnumSpasticity of pharyngeal muscles Abnormality of the crus of the helix Depigmentation/hyperpigmentation Complete left sided absence of grade 1 Peripheral hypomyelination Congenital lactic acidosis Xerostomia Abnormality of tumor necrosis factor Striae distensae Missing ribs Abnormal number of hair whorls grade 3 EMG: myotonic runs Peripheral dysmyelination Fusion of the cerebellar hemispheresL-2-hydroxyglutaric acidemia Upturned corners of mouth Deficit in nonword repetition Elevated urinary 3-hydroxybutyricnonexposed skin Perioral hyperpigmentation sternum Hordeolum internum of skin Localized hirsutism pericardium Impacted tooth Cessation of head growth Narrow maxilla secretion Rhizomelic leg shorteningAbnormality of the xiphoid processUndulate ribs Hypoplasia of first ribs EEG with generalized slow activity Olivopontocerebellar atrophy Specific learning disability Methylmalonic acidemia acid PalateTelangiectasia telangiectasia of extensor surfaces Upper limb spasticity Cafe-au-lait spot Rib segmentation abnormalities Intermittent lactic acidemia Unfavorable response of muscle AntegonialCleft mandible notching of mandible Papilledema Partial right sided absence of grade 4 Increased intramyocellular lipid Myotonia with warm-up Myotonia Poor speech Chronic noninfectious Age-related macular degeneration Rib fusion Stress/infection-induced lactic weakness to acetylcholine esterase Fingerpad telangiectases AsymmetryPremaxillary of the maxilla underdevelopment Twelfth rib hypoplasia Aberrant melanosome maturation pericardium droplets phenomenon Exercise-induced lactic acidemia Aphasia Asymmetry of the mouth lymphadenopathy Frank breech presentation Decreased facial expression Severe intrauterine growth Abnormal sperm morphology Atrophy of the dentate nucleusacidosis Numerous pigmented frecklesFreckling Generalized hypopigmentation inhibitors Grammar-specificGeneralized speech lymphadenopathy disorder PeriodicPseudohypoparathyroidism paralysis Exaggerated startle response Moderate intrauterineretardation growth Short chin DifficultyFrontal walking release signs Protruding tongue Malar prominence Abnormality of chemokine secretion Hypoplasia of the gallbladder Neonatal asphyxia Left bundle branch block Dysphasia Macrocephaly retardationCalcification of the auricular cartilage Chin with horizontal crease Underdeveloped crus of the helix Atretic gallbladder Broad ribs Dyspnea Imbalanced hemoglobin synthesis Cerebellar dysplasiaDyscalculia Severe lactic acidosis Spider hemangioma Absent palatine bone ossification Pointed chin Hordeolum externum Fine, reticulate skin pigmentation Abnormality of the lip Abnormality of isoleucine Abnormality of the zygomatic arch Cystoid macular degeneration Tragal bridge of crus of helix Absent gallbladder Cold-sensitive myotonia Complete breech presentation Symmetric great toe depigmentation Favorable response of weakness to Urocanic aciduria Cellular metachromasia Abnormal rapid eye movement metabolism Malar anomaly Noninflammatory macularMacular atrophy dystrophy Axillary freckling Abnormality of coordination Insomnia Advanced pneumatization of the Tall chin Papule Flaring of lower rib cage SpermAbsent neck anomaly atrioventricular node Incomplete cleft of the upper lip Abnormal posturing acetylcholine esterase inhibitors 4-Hydroxyphenylacetic aciduria (REM) sleep Narcolepsy Blotching pigmentation of the skin Postural instability Reduced 4-Hydroxyphenylpyruvate Bradykinesia Abnormality of mouthFurrowed size tongue Excessive daytime sleepiness Chin with Progressivevertical crease spasticity Horizontal crus of helix Superior pectus carinatum Posterior rib fusion Illusory auras Sperm tail anomaly Handgrip myotonia Pursed lips Hair-pullingmastoid processMaxillozygomatic Ectopic ossification hypoplasia in muscle tissue Pigmentation anomalies of Incoordination Extrapyramidal dyskinesia dioxygenase activity PeriauricularHead-banging skin pits Absent mastoid Dermal atrophy Neonatal inspiratory stridor Vitiligo Hallucinatory auras Tetralogy of Fallot with pulmonary Follicular hyperplasia Narrow mouth Incomplete breech presentation Chin with H-shaped crease Clumsiness Onion bulb formation Asterixis Primitive reflexesDevelopmental (palmomental, stagnation at onset Progressive macrocephaly Progressive extrapyramidal Movement abnormality of the tongue Excessive salivation Decreased calvarial ossification Hypopigmented skin patches sun-exposed skin Inguinal freckling atresia and major aortopulmonary Unilateral cleft lipMyotonia of the face of seizures 4-Hydroxyphenylpyruvicmovement aciduria disorder Abnormality of the outer ear Lumbosacral hirsutism Multiple impacted teeth snout, glabellar) Skin-picking Broad chin Optic disc pallor Depletion of components of the collateral arteries Myotonia of the upper limb Absent speech Heparan sulfate excretion in urine Abnormality of the epiglottis Multiple cafe-au-lait spots Sperm mid-piece anomaly Impaired visuospatial constructive Mild short stature Crus of helix connected to antihelix Absent crus of helix alternative complement pathway Orthopnea 11 pairs of ribs Reticulated skin pigmentation First degree atrioventricular block Non-midline cleft lip Dyslexia Bimanual synkinesiaHyperkinesis Commissural lip pit Bruxism Dysfunctional alternative Posterior rib gap Affective auras cognition Sleep-wake cycle disturbance Delayed pneumatization of Mastoiditisthe Prominent crus of helix Broad xiphoid process Cupped ribs Calcific aortic valve stenosis Left postterior fascicular block Paradoxical myotonia Periodic hypokalemic paresis Aplasia/Hypoplasia of the tongue Focal motor seizures Chin dimple Disproportionate short-limb short 10 pairs of ribs Mnemonic auras Dyskinesia Generalized hypotoniaPostnatal macrocephaly Self-injurious behavior mastoid process complement pathway Aplasia/Hypoplasia of the cerebellar Myotonia of the jaw Cleft upper lip Whistling appearance Cheekbone prominence stature Abnormality of the frontal hairline ExertionalParoxysmal dyspnea dyspnea Supravalvular aortic stenosis Arnold-Chiari malformation Muscular hypotonia Hypervalinemia Ectopic ossification in tendon tissue Inspiratory stridor Mortality/Aging Muscle fiber inclusion bodies Chondroitin sulfate excretion in urine Absent malleus Cleft of chin Serpiginous crus of helix Bifid xiphoid process vermis Poor motor coordination Motor aphasia Hyperactivity RestlessAplasia/Hypoplasia legs of the external Mottled pigmentation Myotonia of the lower limb Slurred speech Oral cleft Keratan sulfate excretion in urine Facial telangiectasia Moderately short stature Prominent xiphoid process Spatulate ribs Increased serum bile acid Abnormalityear of the zygomatic bone Few cafe-au-lait spots Submucous cleft lip Poor gross motor coordination Severely dysplastic cerebellum Parkinsonism Mask-likeLoss of facialfacies expression Hypoplastic facial bones Cholesterol gallstones Reduced alpha/beta synthesis ratio Decreased number of peripheral concentration Parkinsonism with favorable Fixed facial expression Severe short stature PreauricularHypoplasia skin tag of the anterior nasal Reduced beta/alpha synthesis ratio Progressive vitiligo Percussion myotonia Slowed slurred speech Paramedian lip pit Lip freckle PeriodicAlkalosis hyperkalemicDermatan paralysis sulfate excretion in urine Mutism Left anterior fascicular block Third degree atrioventricular block myelinated nerve fibers Everted lower lip vermilionThin vermilion border response to dopaminergic Echolalia Myopathic facies Cheekbone underdevelopment Poor coordination Soft-tissue ossification aroundspine the Verrucous papule Anterior rib cupping Second degree atrioventricular block Bilateral cleft lip medication Polyotia Disturbance of facial expression Macule Relative macrocephaly Wide mouth Hypertrophic auricular cartilage Malar flattening shoulders Intermittent generalized Respiratory distress Fused lips Abnormality of the auditoryBilateral canal external ear deformity Ectopic ossificationHyperisoleucinemia in ligament Spotty hypopigmentation Jamais vu Agenesis of cerebellar vermis Upper lip pit erythematous papular rash Facial hirsutism Median cleft lip Eclabion Supraauricular pit tissue Long philtrum Abnormality of upper lip Cold-induced muscle cramps Abnormality of the prostateHypoparathyroidism Extra conchaLip fold hyperpigmentation Temporal optic disc pallor Hypopigmented skin patches on Exercise-induced muscle crampsThick vermilion border External ear malformation Lethal short-limbed short stature Aplasia of the inferior half of the Poor fine motor coordination Cleft lower lip Dystonia Progressive spastic quadriplegia Diffuse optic disc pallor arms Congenital laryngeal stridor Deja vu Malaligned philtral ridges Short upper lip Tardive dyskinesia Exaggerated median tongue furrow Bifid epiglottis Pointed frontal hairline Progressive inspiratory stridor Hypoplastic philtrum Percussion-induced rapidcerebellar rolling vermis Poor hand-eye coordination Abnormality of lower lip Cheilitis AnotiaPreauricular pit Abnormality of periauricular region Sleep apnea Mottled pigmentation of the trunk Basal lamina 'onion bulb' formation Macrocephaly at birth Telangiectases of the cheeks Absent ossification of calvaria Childhood onset short-limb short Macular hypopigmented whorls, muscle contractions (PIRC) Bilateral cleft lip and palate Abnormal head movements Posterior rib cupping and proximal extremities Muscle fiber intranuclear inclusion Sperm head anomaly Thin upper lip vermilion Severe muscular hypotonia Difficulty in tongue movements Unilateral external ear deformity Dacrystic seizures Central sleep apneastature Low anterior hairlinestreaks, and patches Episodic respiratory distress Decreased number of small Aglossia bodies Muscle mounding Peripheral hypermyelination Tics Appendicular hypotonia Flared, irregular rib ends Mottled pigmentation of Smooth philtrum Long upper lip peripheral myelinated nerve fibers Orofacial dyskinesia Postauricular pit HyperkineticAbnormality seizures of the calvaria Irregular hyperpigmentation Delayed speech and language Diminished movement Diffuse skin atrophy photoexposedAbnormal pattern areas of respiration Deep philtrum Mild receptive language delay Gait disturbance Oral motor hypotonia Facial telangiectasia in butterfly Gelastic seizures Neonatal short-limb short stature Anomalous pulmonary venous return Hypopigmentation of the skin Abnormality of the cerebellar vermis Receptive language delay development midface distribution Focal absence of the external ear Slowly progressive spastic Severe short-limb dwarfism Tented philtrum Mobitz I atrioventricular block Infantile muscular hypotonia Abnormality of the stapes Focal tonic seizures Facial grimacing Mesomelic short stature Abnormality of the philtrum Partial absence of cerebellar vermis Moderate expressive language delay Episodic generalized hypotonia Abnormality of the palate Hypokinetic seizures Facial tics quadriparesis Extension of hair growth on temples Thin lower lip vermilion Respiratory alkalosis Attention deficit hyperactivity Fibroblast metachromasia High anterior hairline Complete heart block with narrow Thick upper lip vermilion Thick lower lip vermilion Muscular hypotonia of the trunk Hypoplasia of the prostate to lateral eyebrow Hypomelanotic macules Midline sinus of philtrum Lower lip pit Angular cheilitis Microglossia PretragalPostauricular ectopia skin tag Vitamin B2 deficiency Hyperpigmentation of the skin QRS complexes Median cleft lip and palate Severe receptive language delay Curved linear dimple below the disorder Bilateral convulsive seizures Abnormality of vitamin B metabolism Pigment gallstones Muscle fiber cytoplasmatic inclusion Oculogyric crisis Sleepy facial expression Expressive language delay Steppage gait lower lip Focal myoclonicDrooling seizures bodies Narrow philtrum Arnold-Chiari type I malformationTremorModerate receptive language delay Metabolic alkalosisProminent prostate median bar Hyperpigmented streaks Complete heart block with broad RS Bilateral cleft palate Mild expressive language delay Cerebellar ataxia associated withEverted upper lip vermilion Limb dystonia Increased serum bile acid Congenital hypoparathyroidism Focal clonic seizures Irregular respiration Mobitz II atrioventricular block Ocular dyssynergia Abnormality of upper lip vermillion Hypokalemic alkalosis Desmin bodies complexes Myelin outfoldings Decreased number of large quadrupedal gait concentration during pregnancy Benign prostatic hyperplasia Progressive hyperpigmentation Piebaldism Broad philtrum Versive seizures Aplasia/Hypoplasia of the Epiglottis Partial albinism peripheral myelinated nerve fibers Torsion dystonia Preauricular skin furrow Frontal hirsutism Cheyne-Stokes respiration Jerky head movements Obstructive sleep apnea Hyperventilation Median cleft palate Ataxia Craniofacial asymmetry Increased groin pigmentation with Muscle fiber tubuloreticular GlobozoospermiaAcephalic spermatozoa Tip-toe gait Toe walking Apnea Resting tremor Axial dystonia Infantile axial hypotonia Eyelid myoclonias Abnormal facial shape Progressive reticulate raindrop depigmentationHyperpigmented/hypopigmented inclusions Short philtrum Gait imbalance Palate fistula Otosclerosis Prostatitis Aplasia/Hypoplasia of the skin Paradoxical respiration Philtrum with midline raphe Cerebellar vermis atrophy Neurodevelopmental delay Hemifacial seizures Thickened calvaria Vitamin B8 deficiency hyperpigmentation Spotty hyperpigmentation macules Confetti hypopigmentation pattern Broad-based gait Irregular hyperpigmentation of back Confetti-like hypopigmented Hypoventilation Disorganization of the anterior Tented upper lip vermilion Falls Paroxysmal dystonia of lower leg skin Tachypnea Nocturnal hypoventilation Irregular myelin loops Dyssynergia Waddling gait Prominent palatine ridges Short attention span Abnormality of the vitamin B12 Diffuse slow skin atrophy macules cerebellarUnilateral vermis cleft palate Non-midline cleft palate Severe expressive language delay Cleft palate Behavioral abnormality Reticular hyperpigmentation AsynergiaMyelin tomacula U-Shaped upper lip vermilion Cold-induced hand cramps Generalized dystonia Hyperparathyroidism metabolism Vitamin B1 deficiency Forehead hyperpigmentation Hypopigmented streaks Motor tics NeonatalHypochloremic hypotonia metabolic alkalosis Abnormality of the vocal cords Hemiclonic seizures Mixed hypo- andSudden hyperpigmentation episodic apnea Muscle fiber hyaline bodies Increased peripheral myelin Exercise-inducedScissor leg cramps gait Thin calvarium Elfin facies Vitamin B6 deficiency Linear hyperpigmentation Hyperpigmentation in sun-exposed Intermittent hyperventilation Peripheral demyelination Akinesia Prominent median palatal raphe Vitamin B5 deficiency Muscle fiber tubularNemaline inclusions bodies thickness Episodic ataxia Craniofacial disproportion Hypoplastic-absent sebaceous of the skin areas Exaggerated cupid's bow Hypokinesia Autoimmune hypoparathyroidismAbsent stapes head Abnormal location of ears Phonic tics glands Dysmetria Inflexible adherence to routines or Tremor by anatomical site Gait ataxia Absent stapes Violent behavior Hypermelanotic macule Episodic hypoventilation Head titubation Unsteady gait Hypokalemic metabolic alkalosis rituals PerseverationPersonality changes Abnormality of the vitamin B3 Abnormality of the forehead Partial anomalous pulmonary Episodic tachypnea Dysgenesis of the cerebellar vermis metabolism Widow's peak venous return Apneic episodes in infancy Loss of Purkinje cells in the Limb ataxia Absent cupid's bow Schizophrenia Apneic episodes precipitated by Intermittent hyperpnea at rest Head tremor Impulsivity Aggressive behavior Coarse facial features Brown pigment gallstones Thin skin cerebellar vermis Inability to walk High palate Anteverted ears illness, fatigue, stress Central hypoventilation Aplasia of the epiglottis Oval face Hypoplastic pilosebaceous units Hyperorality Oppositional defiant disorderSuperiorly displaced ears Discrete 2 to 5-mm hyper- and Generalized hyperpigmentation Cerebellar atrophy Narrow palate Abnormal aggressive,Frontal impulsive bone hypoplasia or Freckles in sun-exposed areas Dysmorphic inferior cerebellar vermis Nonprogressive cerebellar ataxia Shuffling gait Abnormality of the hard palate Lack of spontaneous play Doll-like facies Round face hypopigmented macules Mediosternal, longitudinal streak of Progressive cerebellar ataxia violent behavior Square face Flat face Complement deficiency Central apnea Axillary and groin hyperpigmentation Truncal ataxia Stapes ankylosis Black pigment gallstones Narrow forehead hypopigmentation Time of death Spastic ataxia Abnormal drinkingLack behavior of insight Low-set, posteriorly rotated ears and hypopigmentation Cleft primary palate Microtia Triangular face Macular hyperpigmented Limb dysmetria Prostate neoplasm Decreased adenosylcobalamin Focal dermal aplasia/hypoplasia Dysdiadochokinesis Imperfect vocal cord adduction Atresia of the external auditory canal dermopathy Malabsorption of Vitamin B12 Low-setHypoplasia ears of the epiglottis Areas of hypopigmentation and Limb tremor Posteriorly rotated ears Patchy hypo- and hyperpigmentation Generalized neonatal hypotonia Bird-like facies Small forehead hyperpigmentation that do not Death in childhood Hypokalemic hypochloremic Low frustration tolerance SaltOral craving aversion Facial shape deformation Sloping forehead Large cafe-au-lait macules with Abasia Gait instability, worse in the dark Bowing of the vocal cords Delusions Decreased methylcobalamin Pugilistic facies Asymmetric, linear skin defects follow Blaschko lines Segmental peripheral demyelination metabolic alkalosis Synotia Broad forehead Large forehead Flat forehead Partial functional complement factor irregular margins Multiple lentigines Progressive gait ataxia Severe neonatal hypotonia in males Restlessness Phonophobia Abnormality of folate metabolism Hand tremor Action tremor Asymmetric peripheral demyelination D deficiency Scimitar anomaly Absent skin pigmentationGeneralized reticulate brown Upper limb postural tremor Progressive truncal ataxia Diffuse peripheral demyelination High,Delayed narrow palatesocial development Primary hyperparathyroidism Restrictive behavior Decreased serum complement C9 Mongolian blue spot Short hard palate Abnormal serum cobalaminVitamin B12 deficiency Vitamin B3 deficiency pigmentation Stillbirth Abnormal eating behavior Nevus of Ota Death in adolescence Segmental peripheral Cleft secondary palate Motor delay Loss of abilityTertiary to walk hyperparathyroidism in first decade Facial asymmetry Progressive inability to walk Vertical forehead creases Generalized bronze demyelination/remyelination Pontocerebellar atrophy Decreased serum complement Death in infancy Titubation Cerebellar Purkinje layer atrophy Short stepped shuffling gait Small face Total anomalous pulmonary venous hyperpigmentation Postural tremor Spinocerebellar atrophy Polydipsia High forehead factor I Submucous cleft hard palate Fatigue Congenital localized absence of skin Prominent forehead return Torus palatinus Paranoia Personality disorder Pica Potter facies Stenosis of the external auditory Protruding ear Reduced cerebrospinal fluid Decreased serum complement Sudden death Neonatal death Symmetric peripheral demyelination Cleft hard palate Secondary hyperparathyroidism Asymmetry of the ears Bulimia Large face Loss of ability to walk in early canal 5-methyltetrahydrofolate factor B Intention tremor Microtia, second degreeHypnagogic hallucinations Frontal bossing Kinetic tremor Vocal tremor childhood Obsessive-compulsive behavior Hallucinations concentration Absent pigmentation of the limbs Death in early adulthood Cerebellar granular layer atrophy Loss of ability to walk Osseous atresia of the external Microtia, first degree Mania Vivid hallucinations Cerebellar cortical atrophy Congenital stapesInability ankylosis to walk by Stereotypic behavior Broad inferiorUnderdeveloped crus of antihelix inferior crus of Diffuse cerebellar atrophy Prostate cancer auditory canal Polyphagia childhood/adolescence Abnormal social behavior Agitation antihelix Sweet craving Decreased serum complement Infracardiac total anomalous Isometric tremor Global developmental delay Cutaneous atresia of the externalMicrotia, third degree Abnormality of the pinna Vocal cord paresis Autistic behavior Asymmetric crying face factor H pulmonary venous connection auditory canal Punding Decreased serum complement C3 Abnormality of the glabella Cardiac total anomalous pulmonary Delayed gross motor development Auditory hallucinations Hemifacial hypoplasia Truncal titubation Delayed fine motor development Histrionic personality disorder Asymmetry of the position of the venous connection ears Short faceRecurrent hand flapping Absent pigmentation of the abdomen Asymmetry of the shape of the ears Repetitive compulsive behavior Serpiginous stem of antihelix C8 deficiency Abnormality of the soft palate Chronic fatigueEpisodic fatigue Chondritis ofCupped pinna ear Hemifacial hypertrophy Psychosis Hypnopompic hallucinations Hemifacial atrophy Mixed total anomalous pulmonary Absent pigmentation of chest Folate deficiency Symmetrical progressive peripheral Cleft soft palate Lop ear Narrow face Stereotypical body rocking Antihelical shelf venousSupracardiac connection total anomalous demyelination Eye poking Absent muscle fiber emerin Reduced muscle collagen VI Borderline personality disorder Thickened ears pulmonary venous connection Slit-like opening of the exterior Underdeveloped superiorAbnormality crus of of inferior crus of Autism Obsessive-compulsiveAsymmetry trait of the size of ears Crumpled ear Long face Underdeveloped stem of antihelix Impaired social reciprocity auditory meatus antihelix antihelix Abnormal muscle fiber emerin Cutaneous stenosis of the external Auricular pit Stereotypical hand wringing Abnormal muscle fiber proteinAbnormal muscle fiber Profound global developmental delay Round ear Visual hallucinations Broad face Severe global developmental delay auditoryOsseous canal stenosis of the external expression valosin-containing protein Mild global developmental delay Question mark ear Tongue thrusting Congenital absence of skin of limbs Accumulation of muscle fiber Bilateral vocal cord paresis auditory canal Quelprud Nodule Auricular tag Abnormal shape of the frontal region Vocal cord paralysis Collectionism Hypoplasia of the ear cartilage Prominent glabella Partial complement factor H valosin-containing protein Autism with high cognitive abilities Cranial asymmetry Prominent inferior crus of antihelix deficiency Reduced muscle fiber emerin Moderate global developmental OverfriendlinessShyness Reduced muscle fiber perlecan Unilateral vocal cord paresis Short ear Long ear Abnormality of the antihelix AbnormalityStahl ear of stem of antihelix delay Cystic lesions of the pinnae Abnormality of superior crus of Abnormal emotion/affect behavior Depressed glabella antihelix Abnormal muscle fiber myotilin Abnormal muscle fiber desmin Bipolar affective disorder Aplasia cutis congenita Reduced muscle fiber merosin Abnormal number of tubercles Submucous cleft soft palate Inappropriate behavior Additional crus of antihelixProminent superior crus of antihelix Absent pigmentation of the ventral Velopharyngeal insufficiency Impaired social interactions Psychotic mentation Cryptotia Macrotia chest Reduced muscle dystrophin Abnormality of folate in blood Abnormal muscle fiber Abnormaldystrophin muscle Abnormal fiber lamin muscle A/C fiber merosinAccumulation of muscle fiber desmin Angulated antihelix Mode of inheritance expressionAbnormal muscle fiber alpha Abnormal muscle fiber delta Happy demeanor expression expression dystroglycan Abnormal muscle fiber beta sarcoglycan sarcoglycan Psychotic episodes Depression Prominent antihelix Accumulation of muscle fiber Unilateral vocal cord paralysis Conspicuously happy disposition Hypoplasia of the antihelix Prominent stem of antihelix myotilin Abnormal muscle fiber laminin beta 1 Abnormal muscle fiber dysferlin Impaired ability to form peer Reduced muscle fiber delta Vocal cord paralysis (caused by Irritability Emotional blunting relationships Large fleshy earsSocially inappropriate behavior Reduced muscle fiber alpha sarcoglycan tumor impingement) Abnormal muscle fiber gamma Poor eye contact Type I cryptotia Absent antihelix dystroglycan Abnormal muscle fiber calpain-3Reduced muscle fiber beta sarcoglycan Lack of peer relationships Anhedonia sarcoglycan Type II cryptotia Disinhibition Diminished motivation Autosomal recessive inheritance Inappropriate crying Aplasia cutis congenita on trunk or Familial predisposition Mitochondrial inheritance Impaired use of nonverbal behaviors Bilateral vocal cord paralysis Hypoglycosylation of Abnormal muscle fiber alpha Absent muscle fiber delta limbs Heterogeneous sarcoglycan alpha-dystroglycan Absent muscle dystrophinReduced muscle fiber lamin A/C sarcoglycan Abnormality of the fontanelles or Akinetic mutism Absent muscle fiber beta sarcoglyan Absent muscle fiber dysferlin No social interaction Inappropriate laughter Sporadic expression Absent muscle fiber merosin Abnormality of the antitragus cranial sutures Abnormality of the tragus Abnormality of the metopic suture Transient psychotic episodes Inappropriate sexual behavior Inertia

Reduced muscle fiber dysferlinReduced muscle fiber gamma Abnormality of the uvula Somatic mutation sarcoglycan Contiguous gene syndrome Reduced muscle fiber laminin beta 1 Apathy Genetic anticipation Reduced muscle fiber calpain-3 Absent muscle fiber gamma Abulia Absent muscle fiber calpain-3 sarcoglycan Abnormality of earlobe Duplicated tragus Abnormal fear/anxiety-related Reduced muscle fiber alpha Bifid antitragus Paroxysmal bursts of laughter Broad uvula Anterior creases of earlobe Absent antitragus behavior Absent muscle fiber sarcoglycanalpha sarcoglycan Prominent antitragusHypersexuality Prominent tragus Metopic depression Bifid tragus Underdeveloped antitragus Metopic suture patent to nasal root Cleft earlobeUplifted earlobe Emotional lability Multifactorial inheritance Long uvula Aplasia cutis congenita of scalp Prominent metopic ridge Gonosomal inheritance Narrow uvula Bifid uvula Everted antitragus Abnormality of calvarial morphology Somatic mosaicism Congenital earlobe sinuses Genetic anticipation with paternal Metopic synostosis Mood swings Autosomal dominant contiguous Anxiety anticipation bias gene syndrome Large earlobe Attached earlobe Aplasia/Hypoplasia of the tragus Mood changes Aplasia/Hypoplasia of the earlobes Forward facing earlobe Aplasia/Hypoplasia of the uvula Skull defect Agoraphobia Skull asymmetryPlatybasia Autosomal dominant inheritance Absent earlobe Obliteration of the calvarial diploe Anxiety (with pheochromocytoma) Y-linked inheritance Broad skull Digenic inheritanceOligogenic inheritance Dolichocephaly Polygenic inheritance Trigonocephaly Aplasia cutis congenita over parietal Cloverleaf skull Small earlobe Underdeveloped tragusAbsent tragus area Biparietal narrowing Aplasia cutis congenita over the Short uvula scalp vertexTurricephaly X-linked inheritance Autosomal dominant inheritance Absent uvula Brachycephaly with paternal imprinting Autosomal dominantAutosomal inheritance dominant somatic cell Abnormal shape of the occiput with maternal imprintingmutation Abnormality of cranial sutures Plagiocephaly Small fontanelle Abnormality of fontanelles X-linked recessive inheritance Aplasia cutis congenita over Sex-limited autosomal dominant posterior parietal area Brachyturricephaly Abnormality of the parietal bone Extra fontanelles Aplasia cutis congenita of midline Oxycephaly Wormian bones scalp vertex Acrobrachycephaly Accessory cranial suture Prominent occiput X-linked dominant inheritance Sclerotic cranial sutures Ridged cranial sutures Flat occiput Posterior plagiocephaly Premature closure of fontanelles Anterior plagiocephaly Widely patent sagittal suture Wide cranial sutures Widely patent coronal suture Male-limited autosomal dominant Parietal foramina Premature posterior fontanelle Delayed cranial suture closure CraniosynostosisParietal bossing Symmetrical, oval parietal bone Large fontanelles closure defects

Widely patent fontanelles and sutures Abnormality of the anterior fontanelle

Orbital craniosynostosis Sagittal craniosynostosis Delayed closure of the anterior Large posterior fontanelle fontanelle Wide anterior fontanel Premature anterior fontanel closure

Multiple suture craniosynostosis Midline skin dimplesSmall anterior over fontanelle Coronal craniosynostosis anterior/posterior fontanelles

Lambdoidal craniosynostosis Persistent open anterior fontanelle

Bicoronal synostosis Pansynostosis

Unicoronal synostosis

Bilambdoid synostosis

Left unicoronal synostosis

Unilambdoid synostosis

Right unicoronal synostosis

Right unilambdoid synostosis

Left unilambdoid synostosis