| Abdominal aortic aneurysm, familial form | 0 |
| Achondrogenesis | 0 |
| Achondrogenesis, type 2 | 0 |
| Achromatopsia | 0 |
| Acrocapitofemoral dysplasia | 0 |
| Acromesomelic dysplasia, Grebe type | 0 |
| Acromesomelic dysplasia, Hunter-Thomson type | 0 |
| Acute inflammatory demyelinating polyradiculoneuropathy | 0 |
| Adult-onset proximal spinal muscular atrophy, autosomal dominant | 0 |
| Alagille syndrome | 0 |
| Aland Island eye disease | 0 |
| Alexander disease | 0 |
| Alpha-cristallinopathy | 0 |
| Alternating hemiplegia of childhood | 0 |
| Alzheimer disease, familial | 0 |
| Amish nemaline myopathy | 0 |
| Amyloid nephropathy, familial | 0 |
| Amyloidosis | 0 |
| Amyotrophic lateral sclerosis | 0 |
| Anophthalmia - Microphthalmia, isolated | 0 |
| Aortic aneurysm syndrome, Loeys-Dietz type | 0 |
| Aphakia, primary, congenital | 0 |
| Apolipoprotein A-I deficiency | 0 |
| Arrhythmogenic right ventricular dysplasia | 0 |
| Arthropathy progressive pseudorheumatoid of childhood | 0 |
| Ataxia, familial paroxysmal | 0 |
| Ataxia, spinocerebellar, autosomal dominant, type 7 | 0 |
| Ataxia, spinocerebellar, type 1 | 0 |
| Ataxia, spinocerebellar, type 12 | 0 |
| Ataxia, spinocerebellar, type 14 | 0 |
| Ataxia, spinocerebellar, type 17 | 0 |
| Ataxia, spinocerebellar, type 2 | 0 |
| Ataxia, spinocerebellar, type 27 | 0 |
| Ataxia, spinocerebellar, type 3 | 0 |
| Ataxia, spinocerebellar, type 5 | 0 |
| Ataxia, spinocerebellar, type 6 | 0 |
| Ataxia, spinocerebellar, type 8 | 0 |
| Atelosteogenesis I | 0 |
| Atelosteogenesis, type II | 0 |
| Atelosteogenesis, type III | 0 |
| Atrial cardiomyopathy with heart block | 0 |
| Atrial fibrillation, familial | 0 |
| Atrial septal defect - atrioventricular conduction defects | 0 |
| Atrioventricular canal, complete | 0 |
| Atrioventricular canal, partial | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2 | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2A1 | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2A2 | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2B | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2D | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2E | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2F | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2I | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2J | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2K | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2L | 0 |
| Autosomal dominant centronuclear myopathy | 0 |
| Autosomal dominant cerebellar ataxia | 0 |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease | 0 |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease, type B | 0 |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease, type C | 0 |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease, type D | 0 |
| Autosomal dominant limb-girdle muscular dystrophy, type 1B | 0 |
| Autosomal dominant limb-girdle muscular dystrophy, type 1C | 0 |
| Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | 0 |
| Autosomal recessive Charcot-Marie-Tooth disease, type 2 | 0 |
| Autosomal recessive centronuclear myopathy | 0 |
| Autosomal recessive cerebellar ataxia | 0 |
| Autosomal recessive limb-girdle muscular dystrophy, type 2G | 0 |
| Autosomal recessive limb-girdle muscular dystrophy, type 2H | 0 |
| Autosomal recessive limb-girdle muscular dystrophy, type 2I | 0 |
| Autosomal recessive limb-girdle muscular dystrophy, type 2J | 0 |
| Autosomal recessive limb-girdle muscular dystrophy, type 2K | 0 |
| Autosomal recessive multiple pterygium syndrome | 0 |
| Avascular necrosis of femoral head, familial form | 0 |
| Bardet-Biedl syndrome | 0 |
| Barth syndrome | 0 |
| Bartter syndrome | 0 |
| Bartter syndrome, ''classical'' form | 0 |
| Bartter syndrome, antenatal form | 0 |
| Benign familial infantile seizures | 0 |
| Benign familial neonatal seizures | 0 |
| Benign familial neonatal-infantile seizures | 0 |
| Benign paroxysmal torticollis of infancy | 0 |
| Bjoernstad syndrome | 0 |
| Boomerang dysplasia | 0 |
| Bothnia retinal dystrophy | 0 |
| Brachydactyly | 0 |
| Brachydactyly, type A1 | 0 |
| Brachydactyly, type A2 | 0 |
| Brachydactyly, type B | 0 |
| Brachydactyly, type B2 | 0 |
| Brachydactyly, type C | 0 |
| Brachydactyly, type D | 0 |
| Brachydactyly, type E | 0 |
| Brachydactyly-syndactyly, Zhao type | 0 |
| Brugada syndrome | 0 |
| Butterfly-shaped pigment dystrophy | 0 |
| CARASIL syndrome | 0 |
| Caffey disease | 0 |
| Cap myopathy | 0 |
| Cardiac conduction defect, familial | 0 |
| Cardiodysrythmic potassium-sensitive periodic paralysis | 0 |
| Cardiomyopathy, dilated, with conduction defect | 0 |
| Cardiomyopathy, familial dilated | 0 |
| Cardiomyopathy, familial, hypertrophic | 0 |
| Cardiomyopathy, hypertrophic, primary or idiopathic | 0 |
| Cataract with Y-shaped suture opacities | 0 |
| Cataract, Coppock-like | 0 |
| Cataract, cerulean | 0 |
| Cataract, congenital, partial | 0 |
| Cataract, nuclear | 0 |
| Cataract, posterior polar | 0 |
| Cataract, pulverulent | 0 |
| Cataract, zonular | 0 |
| Cataract-glaucoma | 0 |
| Catecholinergic polymorphic ventricular tachycardia | 0 |
| Central core disease | 0 |
| Centronuclear myopathy | 0 |
| Cerebral hemorrhage with amyloidosis, hereditary | 0 |
| Charcot-Marie-Tooth disease, type 1 | 0 |
| Charcot-Marie-Tooth disease, type 1A | 0 |
| Charcot-Marie-Tooth disease, type 1B | 0 |
| Charcot-Marie-Tooth disease, type 1C | 0 |
| Charcot-Marie-Tooth disease, type 1D | 0 |
| Charcot-Marie-Tooth disease, type 1E | 0 |
| Charcot-Marie-Tooth disease, type 1F | 0 |
| Charcot-Marie-Tooth disease, type 2B1 | 0 |
| Charcot-Marie-Tooth disease, type 2H | 0 |
| Charcot-Marie-Tooth disease, type 4A | 0 |
| Charcot-Marie-Tooth disease, type 4E | 0 |
| Charcot-Marie-Tooth disease, type 4F | 0 |
| Charcot-Marie-Tooth disease, type 4J | 0 |
| Choroidal dystrophy, central areolar | 0 |
| Chronic inflammatory demyelinating polyneuropathy | 0 |
| Chronic myeloid leukemia | 0 |
| Classic Ehlers-Danlos syndrome | 0 |
| Clouston syndrome | 0 |
| Coenzyme Q cytochrome c reductase deficiency | 0 |
| Colon cancer, familial nonpolyposis | 0 |
| Cone rod dystrophy | 0 |
| Congenital fiber-type disproportion myopathy | 0 |
| Congenital fibrinogen deficiency | 0 |
| Congenital multicore myopathy with external ophthalmoplegia | 0 |
| Congenital muscular dystrophy, type 1C | 0 |
| Congenital muscular dystrophy, type 1D | 0 |
| Congenital myasthenic syndromes | 0 |
| Conotruncal heart malformations | 0 |
| Cutis laxa | 0 |
| Cutis laxa, X-linked | 0 |
| Cutis laxa, dominant type | 0 |
| Cutis laxa, recessive type 1 | 0 |
| Cutis laxa, recessive type 2 | 0 |
| Czech dysplasia, metatarsal type | 0 |
| Deafness, autosomal dominant, nonsyndromic, sensorineural, type DFNA | 0 |
| Deafness, autosomal recessive, nonsyndromic, sensorineural, type DFNB | 0 |
| Deafness-infertility syndrome | 0 |
| Dejerine-Sottas syndrome | 0 |
| Dermatofibrosarcoma protuberans | 0 |
| Dermatopathia pigmentosa reticularis | 0 |
| Dermopathy restrictive, lethal | 0 |
| Desmin-related myopathy with Mallory body-like inclusions | 0 |
| Desminopathy | 0 |
| Developmental delay - deafness, Hildebrand type | 0 |
| Diastrophic dwarfism | 0 |
| Digitotalar dysmorphism | 0 |
| Distal hereditary motor neuropathy | 0 |
| Distal hereditary motor neuropathy, type 1 | 0 |
| Distal hereditary motor neuropathy, type 2 | 0 |
| Distal hereditary motor neuropathy, type 3 and type 4 | 0 |
| Distal hereditary motor neuropathy, type 5 | 0 |
| Distal monosomy 1p36 | 0 |
| Dorfman-Chanarin disease | 0 |
| Double outlet right ventricle | 0 |
| Dowling-Degos disease | 0 |
| Dravet syndrome | 0 |
| Duchenne and Becker muscular dystrophy | 0 |
| Dysplasia, mandibuloacral | 0 |
| Dysplasia, mandibuloacral with type A lipodystrophia | 0 |
| Dysplasia, mandibuloacral with type B lipodystrophy | 0 |
| Ectopia lentis isolated | 0 |
| Ehlers-Danlos syndrome, type 1 | 0 |
| Ehlers-Danlos syndrome, type 2 | 0 |
| Ehlers-Danlos syndrome, type 3 | 0 |
| Ehlers-Danlos syndrome, type 4 | 0 |
| Ehlers-Danlos syndrome, type 7 | 0 |
| Emery-Dreifuss muscular dystrophy | 0 |
| Epidermolysis bullosa simplex - limb girdle muscular dystrophy | 0 |
| Epidermolysis bullosa simplex - pyloric atresia | 0 |
| Epidermolysis bullosa simplex superficialis | 0 |
| Epidermolysis bullosa simplex with migratory circinate erythema | 0 |
| Epidermolysis bullosa simplex with mottled pigmentation | 0 |
| Epidermolysis bullosa simplex, Dowling-Meara type | 0 |
| Epidermolysis bullosa simplex, Koebner type | 0 |
| Epidermolysis bullosa simplex, Ogna type | 0 |
| Epidermolysis bullosa simplex, Weber-Cockayne type | 0 |
| Epidermolysis bullosa simplex, autosomal recessive | 0 |
| Epidermolysis bullosa, acantholytic, lethal | 0 |
| Epidermolysis bullosa, dystrophic | 0 |
| Epidermolysis bullosa, dystrophic, autosomal dominant | 0 |
| Epidermolysis bullosa, dystrophic, autosomal recessive, Hallopeau-Siemens type | 0 |
| Epidermolysis bullosa, dystrophic, autosomal recessive, non-Hallopeau-Siemens type | 0 |
| Epidermolysis bullosa, dystrophic, centripetal | 0 |
| Epidermolysis bullosa, dystrophic, inversa | 0 |
| Epidermolysis bullosa, dystrophic, nails only | 0 |
| Epidermolysis bullosa, dystrophic, pretibial | 0 |
| Epidermolysis bullosa, dystrophic, pruriginous | 0 |
| Epidermolysis bullosa, epidermolytic | 0 |
| Epidermolysis bullosa, generalized atrophic benign | 0 |
| Epidermolysis bullosa, junctional | 0 |
| Epidermolysis bullosa, junctional - pyloric atresia | 0 |
| Epidermolysis bullosa, junctional, Herlitz type | 0 |
| Epidermolysis bullosa, junctional, non-Herlitz type | 0 |
| Epilepsy, childhood absence | 0 |
| Epilepsy, female restricted, with intellectual deficit | 0 |
| Epiphyseal dysplasia multiple | 0 |
| Epstein syndrome | 0 |
| Erythroderma, congenital ichthyosiform, bullous | 0 |
| Erythroderma, congenital ichthyosiform, nonbullous | 0 |
| Erythrokeratodermia variabilis, Mendes da Costa type | 0 |
| Escobar syndrome | 0 |
| Familial afibrinogenemia | 0 |
| Familial amyloid polyneuropathy | 0 |
| Familial amyloidosis, Finnish type | 0 |
| Familial aortic dissection | 0 |
| Familial dysfibrinogenemia | 0 |
| Familial hypofibrinogenemia | 0 |
| Familial platelet syndrome with predisposition to acute myelogenous leukemia | 0 |
| Familial spastic paraplegia | 0 |
| Fatal infantile cytochrome C oxidase deficiency | 0 |
| Fechtner syndrome | 0 |
| Fetal akinesia sequence | 0 |
| Fibular aplasia - complex brachydactyly | 0 |
| Foveomacular vitelliform dystrophy, adult-onset | 0 |
| Freeman-Sheldon syndrome | 0 |
| Fronto-temporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) | 0 |
| Frontotemporal dementia | 0 |
| Frontotemporal dementia with motor neuron-disease type inclusions | 0 |
| Furlong syndrome | 0 |
| GRACILE syndrome | 0 |
| Generalized epilepsy with febrile seizures-plus context | 0 |
| Genetic recurrent myoglobinuria | 0 |
| Geroderma osteodysplastica | 0 |
| Gitelman syndrome | 0 |
| Goldmann-Favre syndrome | 0 |
| Greither's disease | 0 |
| Guillain-Barre syndrome | 0 |
| Gusher syndrome | 0 |
| Heart-hand syndrome, Slovenian type | 0 |
| Hemiplegic migraine, familial or sporadic | 0 |
| Hereditary motor and sensory neuropathy, type 6 | 0 |
| Hereditary myopathy with early respiratory failure | 0 |
| Hereditary neuropathy with liability to pressure palsies | 0 |
| Hereditary nonsyndromic deafness with susceptibility to aminoglycoside exposure | 0 |
| Heterotaxia | 0 |
| Histiocytoid cardiomyopathy | 0 |
| Histiocytosis, sea-blue | 0 |
| Humerospinal dysostosis | 0 |
| Hyaline body myopathy | 0 |
| Hyperkalemic periodic paralysis | 0 |
| Hyperlipidemia type 3 | 0 |
| Hypogonadism - retinitis pigmentosa | 0 |
| Hypokalemic periodic paralysis | 0 |
| Hypoplastic left heart syndrome | 0 |
| Hypospadias, familial | 0 |
| Ichthyosis congenita, harlequin type | 0 |
| Ichthyosis hystrix | 0 |
| Ichthyosis hystrix, Curth-Macklin type | 0 |
| Ichthyosis, lamellar | 0 |
| Immotile cilia syndrome, Kartagener type | 0 |
| Infantile Bartter syndrome with deafness | 0 |
| Intellectual deficit - epilepsy, X-linked | 0 |
| Interauricular communication | 0 |
| Intermediate nemaline myopathy | 0 |
| Jervell and Lange-Nielsen syndrome | 0 |
| Joubert syndrome | 0 |
| Juvenile myoclonic epilepsy | 0 |
| KID syndrome | 0 |
| Kearns-Sayre syndrome | 0 |
| Keratoderma hereditarium mutilans | 0 |
| Keratoderma palmoplantar - deafness | 0 |
| Keratosis palmoplantaris striata | 0 |
| King-Denborough syndrome | 0 |
| Kniest dysplasia | 0 |
| Knuckle pods - leuconychia - sensorineural deafness | 0 |
| Kousseff syndrome | 0 |
| LOGIC syndrome | 0 |
| Laing distal myopathy | 0 |
| Laminopathy, type Decaudain-Vigouroux | 0 |
| Larsen syndrome | 0 |
| Laurence-Moon syndrome | 0 |
| Leber amaurosis, congenital | 0 |
| Leber hereditary optic neuropathy | 0 |
| Left ventricular noncompaction | 0 |
| Legg-Calve-Perthes disease | 0 |
| Leigh syndrome | 0 |
| Leucinosis | 0 |
| Leukemia, myeloid, acute | 0 |
| Leukemia, myeloid, acute, with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | 0 |
| Lipoamide dehydrogenase deficiency | 0 |
| Lipodystrophy, familial partial, Dunnigan type | 0 |
| Long QT syndrome, familial | 0 |
| MASS syndrome | 0 |
| MELAS syndrome | 0 |
| MORM syndrome | 0 |
| Macular degeneration, age-related | 0 |
| Malignant hyperthermia | 0 |
| Marfan syndrome | 0 |
| Marshall syndrome | 0 |
| May-Hegglin thrombocytopenia | 0 |
| McKusick-Kaufman, syndrome | 0 |
| Meckel syndrome | 0 |
| Medullary cystic kidney disease, autosomal recessive | 0 |
| Medullary cystic kidney disease, autosomal recessive, juvenile | 0 |
| Meniere disease | 0 |
| Menkes disease | 0 |
| Metageria | 0 |
| Metaphyseal anadysplasia | 0 |
| Microphthalmia - cataract | 0 |
| Mild nemaline myopathy | 0 |
| Mitochondrial myopathy - lactic acidosis | 0 |
| Monosomy 22q11 | 0 |
| Moyamoya disease | 0 |
| Muir-Torre syndrome | 0 |
| Multiminicore myopathy | 0 |
| Multiple epiphyseal dysplasia due to collagen 9 anomaly | 0 |
| Multiple epiphyseal dysplasia, Beighton type | 0 |
| Multiple epiphyseal dysplasia, type 1 | 0 |
| Multiple epiphyseal dysplasia, type 4 | 0 |
| Multiple epiphyseal dysplasia, type 5 | 0 |
| Multiple pterygium syndrome, lethal form | 0 |
| Multiple synostoses | 0 |
| Muscle eye brain disease | 0 |
| Muscular dystrophy, Becker type | 0 |
| Muscular dystrophy, Duchenne type | 0 |
| Muscular dystrophy, Fukuyama type | 0 |
| Muscular dystrophy, limb-girdle, autosomal recessive, type 2F | 0 |
| Myeloma, multiple | 0 |
| Myotonia congenita acetazolamide responsive | 0 |
| Myotonia fluctuans | 0 |
| Myotonia permanens | 0 |
| Myxofibrosarcoma | 0 |
| Myxoid liposarcoma | 0 |
| NADH-CoQ reductase deficiency | 0 |
| NARP/MILS syndrome | 0 |
| Naegeli-Franceschetti-Jadassohn syndrome | 0 |
| Nance-Horan syndrome | 0 |
| Nanophthalmia | 0 |
| Naxos disease | 0 |
| Nemaline myopathy | 0 |
| Neuropathy with hearing impairment | 0 |
| Neutral lipid storage disease | 0 |
| Neutral lipid storage myopathy | 0 |
| Night blindness, stationary, congenital | 0 |
| Non-syndromic congenital cataract | 0 |
| Nonsyndromic genetic deafness | 0 |
| Occipital horn syndrome | 0 |
| Ocular anterior segment mesenchymal dysgenesis, familial | 0 |
| Oculodentodigital dysplasia | 0 |
| Oral-facial-digital syndrome, type 1 | 0 |
| Osteogenesis imperfecta | 0 |
| Otospondylomegaepiphyseal dysplasia | 0 |
| Pachyonychia congenita | 0 |
| Paramyotonia congenita of Von Eulenburg | 0 |
| Parkinson disease, genetic type | 0 |
| Parkinson's disease dementia, familial | 0 |
| Pendred syndrome | 0 |
| Pick disease of brain | 0 |
| Pierson syndrome | 0 |
| Platyspondylic dysplasia, Torrance type | 0 |
| Postsynaptic congenital myasthenic syndromes | 0 |
| Potassium aggravated myotonia | 0 |
| Presynaptic congenital myasthenic syndromes | 0 |
| Primary ciliary dyskinesia | 0 |
| Primary lateral sclerosis | 0 |
| Progeria | 0 |
| Progeroid syndrome, De Barsy type | 0 |
| Progressive cone dystrophy | 0 |
| Pseudoachondroplasia | 0 |
| Pyruvate carboxylase deficiency | 0 |
| Pyruvate dehydrogenase deficiency | 0 |
| Reducing body myopathy | 0 |
| Restrictive cardiomyopathy, idiopathic or familial | 0 |
| Retinal degeneration, late-onset | 0 |
| Retinal dystrophy, genetic | 0 |
| Retinitis pigmentosa | 0 |
| Retinitis punctata albescens | 0 |
| Rigid spine syndrome | 0 |
| Rippling muscle disease | 0 |
| Robinow syndrome | 0 |
| Romano-Ward long QT syndrome | 0 |
| Roussy-Levy syndrome | 0 |
| Saguenay-Lac-St | 0 |
| Scapuloperoneal amyotrophy | 0 |
| SeSAME syndrome | 0 |
| Sebastian syndrome | 0 |
| Senior-Loken syndrome | 0 |
| Severe congenital nemaline myopathy | 0 |
| Severe dilated cardiomyopathy due to lamin A/C mutation | 0 |
| Sheldon-Hall syndrome | 0 |
| Short QT syndrome, familial | 0 |
| Shprintzen-Goldberg syndrome | 0 |
| Sick sinus syndrome | 0 |
| Situs ambiguus | 0 |
| Spinocerebellar ataxia with axonal neuropathy, type 2 | 0 |
| Spondyloepimetaphyseal dysplasia | 0 |
| Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification | 0 |
| Spondyloepimetaphyseal dysplasia congenita, Strudwick type | 0 |
| Spondyloepimetaphyseal dysplasia, Missouri type | 0 |
| Spondyloepimetaphyseal dysplasia, aggrecan type | 0 |
| Spondyloepimetaphyseal dysplasia, matrilin-3 type | 0 |
| Spondyloepiphyseal dysplasia | 0 |
| Spondyloepiphyseal dysplasia due to COL2A1 mutation, mild, with early-onset osteoarthritis | 0 |
| Spondyloepiphyseal dysplasia tarda | 0 |
| Spondyloepiphyseal dysplasia, Kimberley type | 0 |
| Spondyloepiphyseal dysplasia, Omani type | 0 |
| Spondyloepiphyseal dysplasia, Pakistani type | 0 |
| Spondyloepiphyseal dysplasia, congenital type | 0 |
| Spondylometaphyseal dysplasia | 0 |
| Spondylometaphyseal dysplasia, 'corner fracture' type | 0 |
| Spondyloperipheral dysplasia - short ulna | 0 |
| Stapes ankylosis with broad thumbs and toes | 0 |
| Stargardt disease | 0 |
| Steatocystoma multiplex | 0 |
| Stickler syndrome | 0 |
| Stickler syndrome, type 1 | 0 |
| Stickler syndrome, type 3 | 0 |
| Striatonigral degeneration, infantile | 0 |
| Succinate CoQ reductase deficiency | 0 |
| Supranuclear palsy, progressive | 0 |
| Supravalvar aortic stenosis | 0 |
| Symphalangism, proximal | 0 |
| Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | 0 |
| Synaptic congenital myasthenic syndromes | 0 |
| Syndactyly | 0 |
| Syndactyly, type 2 | 0 |
| Syndactyly, type 3 | 0 |
| Syndactyly, type 5 | 0 |
| Syndromic microphthalmia due to OTX2 mutation | 0 |
| Synspondylism | 0 |
| Tangier disease | 0 |
| Tarsal-carpal coalition syndrome | 0 |
| Tetralogy of Fallot | 0 |
| Thoracic aortic aneurysm, familial form | 0 |
| Thost-Unna palmoplantar keratoderma | 0 |
| Thyrotoxic periodic paralysis | 0 |
| Tibial muscular dystrophy | 0 |
| Timothy syndrome | 0 |
| Transient bullous dermolysis of the newborn | 0 |
| Transposition of the great arteries | 0 |
| Transposition of the great arteries, right | 0 |
| Transthyretin-related familial amyloid cardiomyopathy | 0 |
| Typical nemaline myopathy | 0 |
| Usher syndrome | 0 |
| VATER association | 0 |
| Walker-Warburg syndrome | 0 |
| Weill-Marchesani syndrome | 0 |
| Weissenbacher- Zweymuller syndrome | 0 |
| Werner syndrome | 0 |
| Williams syndrome | 0 |
| Wolff-Parkinson-White syndrome | 0 |
| Wolfram syndrome | 0 |
| Woolly hair - palmoplantar keratoderma - dilated cardiomyopathy | 0 |
| Wrinkly skin syndrome | 0 |
| X-linked Charcot-Marie-Tooth disease, type 3 | 0 |
| X-linked centronuclear myopathy | 0 |
| X-linked myopathy with postural muscle atrophy | 0 |
| ZASP-related myofibrillar myopathy | 0 |
| 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency | 1 |
| 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency | 1 |
| ABCD syndrome | 1 |
| Acheiropodia | 1 |
| Acrocallosal syndrome, Schinzel type | 1 |
| Albinism ocular - late onset sensorineural deafness | 1 |
| Anaplastic large cell lymphoma | 1 |
| Aniridia | 1 |
| Astrocytoma | 1 |
| Bannayan-Riley-Ruvalcaba syndrome | 1 |
| Breast cancer, familial | 1 |
| Cardiofaciocutaneous syndrome | 1 |
| Carney-Stratakis syndrome | 1 |
| Colobomatous microphthalmia | 1 |
| Congenital adrenal hyperplasia | 1 |
| Conn's syndrome | 1 |
| Corpus callosum dysgenesis, X-linked recessive | 1 |
| Corticosterone methyl-oxydase deficiency, type I (CMO I) | 1 |
| Corticosterone methyl-oxydase deficiency, type II (CMO II) | 1 |
| Cowden syndrome | 1 |
| Deaf blind hypopigmentation syndrome, Yemenite type | 1 |
| Denys-Drash syndrome | 1 |
| Desmoplastic small round cell tumor | 1 |
| Endocrine tumor | 1 |
| Esthesioneuroblastoma | 1 |
| Ewing sarcoma | 1 |
| Fanconi anemia | 1 |
| Foveal hypoplasia - presenile cataract | 1 |
| Frasier syndrome | 1 |
| Gastrointestinal stromal tumor | 1 |
| Gingival fibromatosis, dominant | 1 |
| Glaucoma, congenital | 1 |
| Glaucoma, hereditary | 1 |
| Glaucoma, juvenile | 1 |
| Glioblastoma | 1 |
| Gorlin syndrome | 1 |
| Greig syndrome | 1 |
| Hereditary pheochromocytoma-paraganglioma syndrome | 1 |
| Hirschsprung disease | 1 |
| Holoprosencephaly | 1 |
| Holoprosencephaly deletion 2p | 1 |
| Hydrocephalus due to stenosis of aqueduct of Sylvius | 1 |
| Hyperaldosteronism, familial, type 1 | 1 |
| Hyperaldosteronism, familial, type 2 | 1 |
| Hypereosinophilic syndromes | 1 |
| Hypoaldosteronism, familial | 1 |
| Idiopathic and/or familial pulmonary arterial hypertension | 1 |
| Iridogoniodysgenesis | 1 |
| Juvenile gastrointestinal polyposis | 1 |
| Juvenile polyposis of infancy | 1 |
| Keratitis, hereditary | 1 |
| LEOPARD syndrome | 1 |
| Leukemia of ambiguous lineage, acute | 1 |
| Leukemia, lymphoblastic, acute | 1 |
| Lhermitte-Duclos disease | 1 |
| Li-Fraumeni syndrome | 1 |
| MASA syndrome | 1 |
| Mast cell leukemia | 1 |
| Mastocytosis | 1 |
| Mastocytosis, aggressive systemic | 1 |
| Mastocytosis, indolent systemic | 1 |
| Mastocytosis, systemic | 1 |
| Mastocytosis, systemic, with an associated clonal hematologic non-mast cell c lineage disease | 1 |
| Meacham syndrome | 1 |
| Melanoma of soft part | 1 |
| Melanoma, familial | 1 |
| Melanoma-pancreatic cancer, syndrome | 1 |
| Meningioma | 1 |
| Mesangial sclerosis, diffuse | 1 |
| Microcephaly, isolated congenital | 1 |
| Mixed polyposis syndrome, hereditary | 1 |
| Mullerian aplasia | 1 |
| Multiple endocrine neoplasia, type 2 | 1 |
| Myeloid neoplasm associated with PDGFRA rearrangement | 1 |
| Nephroblastoma | 1 |
| Nephrotic syndrome, idiopathic, steroid-resistant, familial | 1 |
| Nephrotic syndrome, idiopathic, steroid-resistant, sporadic | 1 |
| Nephrotic syndrome, idiopathic, steroid-resistant, with diffuse mesangial sclerosis, sporadic | 1 |
| Neuroblastoma | 1 |
| Neurofibromatosis type 2 | 1 |
| Neurofibromatosis, type 3 | 1 |
| Noonan syndrome | 1 |
| Noonan-like syndrome | 1 |
| Ocular coloboma | 1 |
| Oculo-digito-esophageal-duodenal syndrome (ODED) | 1 |
| Oculocutaneous albinism | 1 |
| Oculocutaneous albinism type 4, OCA-4 | 1 |
| Oligodendroglioma | 1 |
| Ondine syndrome | 1 |
| Osteosarcoma | 1 |
| Pallister-Hall syndrome | 1 |
| Pancreatic carcinoma, familial | 1 |
| Papilloma of choroid plexus | 1 |
| Paris-Trousseau thrombocytopenia | 1 |
| Peters anomaly | 1 |
| Pheochromocytoma and secreting paraganglioma | 1 |
| Piebaldism | 1 |
| Pitt-Hopkins syndrome | 1 |
| Polydactyly of a triphalangeal thumb (PPD2) | 1 |
| Polydactyly postaxial | 1 |
| Polydactyly postaxial, type A | 1 |
| Polydactyly postaxial, type B | 1 |
| Polydactyly, preaxial | 1 |
| Polysyndactyly (PPD4) | 1 |
| Prader-Willi syndrome | 1 |
| Premature chromosome condensation with microcephaly and intellectual deficit | 1 |
| Primary familial polycythemia | 1 |
| Prostate cancer, familial | 1 |
| Proteus syndrome | 1 |
| Proteus-like syndrome - intellectual deficit - eye defects | 1 |
| Pulmonary venoocclusive disease | 1 |
| Renal cell carcinoma, familial | 1 |
| Renal dysplasia | 1 |
| Renal dysplasia, bilateral | 1 |
| Renal dysplasia, unilateral | 1 |
| Renal-diabetes MODY5 syndrome | 1 |
| Rendu-Osler-Weber disease | 1 |
| Retinoblastoma | 1 |
| Rhabdoid tumor | 1 |
| Rieger syndrome | 1 |
| Rieger-Axenfeld anomaly | 1 |
| Ring dermoid of cornea | 1 |
| Simpson-Golabi-Behmel syndrome | 1 |
| Solitary median maxillary central incisor syndrome | 1 |
| Squamous cell carcinoma of head and neck | 1 |
| Stein-Leventhal syndrome | 1 |
| Thyroid carcinoma, medullary | 1 |
| Thyroid carcinoma, papillary or follicular | 1 |
| Tietz syndrome | 1 |
| Triphalangeal thumb-polysyndactyly syndrome | 1 |
| Triphalangeal thumbs - duplication of the big toes, familial | 1 |
| VACTERL with hydrocephalus | 1 |
| Von Hippel-Lindau disease | 1 |
| WAGR syndrome | 1 |
| Waardenburg syndrome | 1 |
| Waardenburg syndrome type 2 | 1 |
| Waardenburg-Shah syndrome | 1 |
| Waardenburg-Shah syndrome, neurologic variant | 1 |
| Adrenoleukodystrophy, neonatal | 2 |
| Bifunctional enzyme deficiency | 2 |
| Pseudo-Zellweger syndrome | 2 |
| Refsum disease, infantile form | 2 |
| Zellweger syndrome | 2 |
| Congenital neuronal ceroid lipofuscinosis | 3 |
| Infantile neuronal ceroid lipofuscinosis | 3 |
| Juvenile neuronal ceroid lipofuscinosis | 3 |
| Late infantile neuronal ceroid lipofuscinosis | 3 |
| Neuronal ceroid lipofuscinosis | 3 |
| Progressive epilepsy-intellectual deficit, Finnish type | 3 |
| Achondroplasia | 4 |
| Antley-Bixler syndrome | 4 |
| Antley-Bixler-like syndrome - ambiguous genitalia - disordered steroidogenesis | 4 |
| Apert syndrome | 4 |
| CHARGE syndrome | 4 |
| Camptodactyly - tall stature - scoliosis - hearing loss | 4 |
| Craniosynostosis | 4 |
| Crouzon disease | 4 |
| Crouzon syndrome - acanthosis nigricans | 4 |
| Cutis gyrata - acanthosis nigricans - craniosynostosis | 4 |
| Eunuchoidism familial | 4 |
| Familial scaphocephaly syndrome, McGillivray type | 4 |
| Hypochondroplasia | 4 |
| Isolated brachycephaly | 4 |
| Isolated cloverleaf skull syndrome | 4 |
| Isolated craniosynostosis | 4 |
| Isolated plagiocephaly | 4 |
| Isolated scaphocephaly | 4 |
| Isolated trigonocephaly | 4 |
| Jackson-Weiss syndrome | 4 |
| Kallmann syndrome | 4 |
| Kallmann syndrome - heart disease | 4 |
| Lacrimo-auriculo-dento-digital syndrome | 4 |
| Muenke syndrome | 4 |
| Myeloid neoplasm associated with FGFR1 rearrangement | 4 |
| Normosmic congenital hypogonadotropic hypogonadism | 4 |
| Osteoglophonic dwarfism | 4 |
| Pfeiffer syndrome | 4 |
| Pfeiffer syndrome, type 1 | 4 |
| Pfeiffer syndrome, type 2 | 4 |
| Saethre-Chotzen syndrome | 4 |
| Severe achondroplasia - developmental delay - acanthosis nigricans | 4 |
| Thanatophoric dwarfism | 4 |
| Thanatophoric dwarfism, type I | 4 |
| Thanatophoric dwarfism, type II | 4 |
| CACH syndrome | 5 |
| Congenital or early infantile CACH syndrome | 5 |
| Cree leukoencephalopathy | 5 |
| Juvenile or adult CACH syndrome | 5 |
| Late infantile CACH syndrome | 5 |
| Ovarioleukodystrophy | 5 |
| Crigler-Najjar syndrome | 6 |
| Gilbert syndrome | 6 |
| Hyperbilirubinemia transient familial neonatal | 6 |
| COFS syndrome | 7 |
| Cockayne syndrome | 7 |
| De Sanctis-Cacchione syndrome | 7 |
| IBIDS syndrome | 7 |
| PIBIDS syndrome | 7 |
| UV-sensitive syndrome | 7 |
| Xeroderma pigmentosum | 7 |
| Bethlem myopathy | 8 |
| Congenital muscular dystrophy, Ullrich type | 8 |
| Amelogenesis imperfecta | 9 |
| Amelogenesis imperfecta, hypocalcified type | 9 |
| Amelogenesis imperfecta, hypomaturation type | 9 |
| Amelogenesis imperfecta, hypomaturation-hypoplastic with taurodontism | 9 |
| Amelogenesis imperfecta, hypoplastic type | 9 |
| Tricho-dento-osseous syndrome | 9 |
| Alveolar rhabdomyosarcoma | 10 |
| Craniofacial-deafness-hand syndrome | 10 |
| Rhabdomyosarcoma | 10 |
| Waardenburg syndrome type 1 | 10 |
| Waardenburg syndrome type 3 | 10 |
| Alpha-thalassemia | 11 |
| Hemoglobin Constant Spring | 11 |
| Hemoglobin H disease | 11 |
| Hydrops fetalis of Barts | 11 |
| Agammaglobulinemia, alymphocytotic type | 12 |
| LIG4 syndrome | 12 |
| Omenn syndrome | 12 |
| Primary immunodeficiency with skin granulomas | 12 |
| 3-hydroxylacyl-CoA dehydrogenase deficiency | 13 |
| DEND syndrome | 13 |
| Diabetes mellitus, neonatal | 13 |
| Diabetes mellitus, neonatal, permanent | 13 |
| Diabetes mellitus, neonatal, transient | 13 |
| Diabetes mellitus, permanent neonatal - pancreatic and cerebellar agenesis | 13 |
| Diffuse hyperinsulinism, diazoxide-resistant | 13 |
| Diffuse hyperinsulinism, diazoxide-sensitive | 13 |
| Hyperinsulinism due to focal adenomatous hyperplasia | 13 |
| Hyperinsulinism, exercise-induced | 13 |
| Insulin-resistance syndrome, type A | 13 |
| Leprechaunism | 13 |
| MODY syndrome | 13 |
| Metabolic myopathy due to lactate transporter defect | 13 |
| Partial pancreas agenesis | 13 |
| Persistent hyperinsulinemic hypoglycemia of infancy | 13 |
| Rabson-Mendenhall syndrome | 13 |
| Myelodysplastic syndromes | 14 |
| Refractory anemia with excess blasts | 14 |
| Hypotrichosis simplex | 15 |
| Woolly hair | 15 |
| Neurogenic arthrogryposis multiplex congenita | 16 |
| Proximal spinal muscular atrophy | 16 |
| Proximal spinal muscular atrophy, type 1 | 16 |
| Proximal spinal muscular atrophy, type 2 | 16 |
| Proximal spinal muscular atrophy, type 3 | 16 |
| Proximal spinal muscular atrophy, type 4 | 16 |
| Spinal muscular atrophy - arthrogryposis | 16 |
| Hemochromatosis | 17 |
| Hemochromatosis, adult form | 17 |
| Hemochromatosis, juvenile form | 17 |
| Iron deficiency anemia | 17 |
| Porphyria | 17 |
| Porphyria cutanea tarda | 17 |
| Porphyria, Variegata | 17 |
| Porphyria, acute hepatic | 17 |
| Porphyria, congenital erythropoietic | 17 |
| Protoporphyria, erythropoietic | 17 |
| Sideroblastic anemia | 17 |
| Sideroblastic anemia, X-linked | 17 |
| Hyperlipoproteinemia type 1 | 18 |
| Hyperlipoproteinemia, type 4 | 18 |
| Hyperlipoproteinemia, type 5 | 18 |
| Major hypertriglyceridemia | 18 |
| Glycogen storage disease due to liver phosphorylase deficiency | 19 |
| Glycogen storage disease due to phosphorylase kinase deficiency | 19 |
| Glycogen storage disease, type 9 | 19 |
| Muscular phosphorylase kinase deficiency | 19 |
| Generalized pseudohypoaldosteronism type 1 | 20 |
| Hypertension due to gain-of-function mutations in the mineralocorticoid receptor | 20 |
| Liddle syndrome | 20 |
| Pseudohypoaldosteronism, type 1 | 20 |
| Renal pseudohypoaldosteronism type 1 | 20 |
| Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis | 21 |
| Atypical Rett syndrome | 21 |
| Coffin-Lowry syndrome | 21 |
| Distal monosomy 3p | 21 |
| FG syndrome | 21 |
| FG syndrome, type 1 | 21 |
| Frontometaphyseal dysplasia | 21 |
| Intellectual deficit, X-linked - marfanoid habitus | 21 |
| Intellectual deficit, X-linked - psychosis - macroorchidism | 21 |
| Intestinal pseudoobstruction, chronic, idiopathic | 21 |
| Lissencephaly, X-linked - agenesis of the corpus callosum - genital anomalies | 21 |
| Micrencephaly - corpus callosum agenesis - abnormal genitalia | 21 |
| Nodular neuronal heterotopia | 21 |
| Osteodysplasty, Melnick-Needles type | 21 |
| Otopalatodigital syndrome | 21 |
| Otopalatodigital syndrome, type 1 | 21 |
| Otopalatodigital syndrome, type 2 | 21 |
| Partington syndrome | 21 |
| Periventricular nodular heterotopia | 21 |
| Rare intellectual deficit without developmental anomaly | 21 |
| Rett syndrome | 21 |
| Spasticity - intellectual deficit - epilepsy, X-linked | 21 |
| Trisomy Xq28 | 21 |
| West syndrome | 21 |
| Focal cortical dysplasia | 22 |
| Lymphangioleiomyomatosis | 22 |
| Polycystic kidney disease, autosomal dominant | 22 |
| Polycystic kidney disease, autosomal dominant, type 1, with tuberous sclerosis | 22 |
| Tuberous sclerosis | 22 |
| 3-methylglutaconic aciduria, type 3 | 23 |
| Optic atrophy and cataract, autosomal dominant | 23 |
| 3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency of | 24 |
| Mitochondrial trifunctional protein deficiency | 24 |
| 3-hydroxyacyl-CoA dehydrogenase, short chain, deficiency of | 25 |
| Intellectual deficit, X-linked - choreoathetosis - abnormal behavior | 25 |
| Sialidosis type 1 | 26 |
| Sialidosis, type 2 | 26 |
| Crohn disease | 27 |
| Granulomatous arthritis of childhood | 27 |
| Ulcerative colitis | 27 |
| Camurati-Engelmann disease | 28 |
| Corneal dystrophy | 28 |
| Corneal dystrophy - perceptive deafness | 28 |
| Corneal dystrophy, Avellino type | 28 |
| Corneal dystrophy, Groenouw type | 28 |
| Corneal dystrophy, Reis-Buckler type | 28 |
| Corneal dystrophy, endothelial fuchs type | 28 |
| Corneal dystrophy, gelatinous drop-like | 28 |
| Corneal dystrophy, juvenile epithelial, of Meesmann | 28 |
| Corneal dystrophy, lattice, type I | 28 |
| Corneal dystrophy, lattice, type IIIa | 28 |
| Corneal flecked dystrophy, Francois-Neetens type | 28 |
| Endothelial dystrophy, congenital, hereditary | 28 |
| Keratoconus, isolated | 28 |
| Familial Parathyroid adenoma | 29 |
| Hyperparathyroidism - jaw tumor syndrome (HPT-JT) | 29 |
| Hyperparathyroidism, familial, isolated (FIHPT) | 29 |
| Hyperparathyroidism, primary, familial | 29 |
| Multiple endocrine neoplasia type 1 | 29 |
| Parathyroid carcinoma | 29 |
| Zollinger-Ellison syndrome | 29 |
| Encephalopathy due to sulfite oxidase deficiency | 30 |
| Hyperekplexia, hereditary | 30 |
| Xanthinuria | 30 |
| Acute Respiratory Distress Syndrome, adult | 31 |
| Acute respiratory distress syndrome, Infant | 31 |
| Chronic pneumonitis of infancy | 31 |
| Dyskeratosis congenita | 31 |
| Familial hemophagocytic lymphohistiocytosis | 31 |
| Idiopathic aplastic anemia | 31 |
| Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia | 31 |
| Pulmonary alveolar proteinosis | 31 |
| Pulmonary fibrosis, idiopathic | 31 |
| Pulmonary surfactant protein anomalies | 31 |
| Respiratory bronchiolitis - interstitial lung disease | 31 |
| Retinopathy - anemia- central nervous system anomalies | 31 |
| Shwachman-Diamond syndrome | 31 |
| Alveolar soft-part sarcoma | 32 |
| Asperger syndrome | 32 |
| Autism | 32 |
| Desmoid disease | 32 |
| Familial adenomatous polyposis | 32 |
| Gardner syndrome | 32 |
| Gastric cancer, familial | 32 |
| Gastric linitis plastica | 32 |
| Hepatocellular carcinoma, childhood-onset | 32 |
| Medulloblastoma | 32 |
| Pilomatrixoma | 32 |
| Renal cell carcinoma, papillary, familial | 32 |
| Turcot syndrome with polyposis | 32 |
| Defective apolipoprotein B-100, familial | 33 |
| Hypercholesterolemia, familial | 33 |
| Phytosterolemia | 33 |
| Achalasia-alacrimia syndrome | 34 |
| Triple A syndrome | 34 |
| 46,XX testicular disorder of sex development | 35 |
| 46,XY disorder of sex development - adrenal insufficiency | 35 |
| 46,XY gonadal dysgenesis - motor and sensory neuropathy | 35 |
| Anorchidia, bilateral | 35 |
| Congenital adrenal insufficiency due to adrenal hypoplasia | 35 |
| Gonadal dysgenesis, XY female type | 35 |
| Gonadal dysgenesis, XY type - associated anomalies | 35 |
| XY/XO gonadal dysgenesis | 35 |
| 3-Phosphoglycerate dehydrogenase deficiency | 36 |
| Neurometabolic disorder due to serine deficiency | 36 |
| Acrofacial dysostosis, Weyers type | 37 |
| Ellis Van Creveld syndrome | 37 |
| Epilepsy, nocturnal, frontal lobe type | 38 |
| Epilepsy, partial, familial | 38 |
| Deletion 17q11 | 39 |
| Excessive growth - learning disabilities - facial dysmorphism | 39 |
| Grisart-Destree syndrome | 39 |
| Neurofibromatosis - Noonan syndrome | 39 |
| Neurofibromatosis type 1 | 39 |
| Neurofibromatosis, familial segmental | 39 |
| Neurofibromatosis, familial spinal | 39 |
| Watson syndrome | 39 |
| Glutaryl-CoA dehydrogenase deficiency | 40 |
| Multiple FAD dehydrogenase deficiency | 40 |
| Uniparental disomy of maternal origin, chromosome 14 | 41 |
| Uniparental disomy of paternal origin, chromosome 14 | 41 |
| Pontocerebellar hypoplasia | 42 |
| Pontocerebellar hypoplasia type 2 | 42 |
| Pontocerebellar hypoplasia type 4 | 42 |
| Pontocerebellar hypoplasia type 6 | 42 |
| Benign recurrent intrahepatic cholestasis | 43 |
| Cholestasis, progressive familial intrahepatic 2 | 43 |
| Cholestasis, progressive familial intrahepatic 3 | 43 |
| Cholestasis, progressive familial intrahepatic, type 1 | 43 |
| Intrahepatic cholestasis of pregnancy | 43 |
| Low phospholipid associated cholelithiasis | 43 |
| Progressive familial intrahepatic cholestasis | 43 |
| BOR syndrome | 44 |
| Branchio-otic syndrome | 44 |
| Otofaciocervical syndrome | 44 |
| Bronchopneumopathy, chronic, due to TAP deficiency | 45 |
| Immunodeficiency by defective expression of HLA class 1 | 45 |
| Immunodeficiency by defective expression of HLA class 2 | 45 |
| Chorea familial, benign | 46 |
| Hyperthyroidism, familial, due to mutations in TSH receptor | 46 |
| Hyperthyroidism, familial, gestational | 46 |
| Hypothyroidism, congenital | 46 |
| Hypothyroidism, congenital idiopathic | 46 |
| Thyroid dyshormonogenesis, familial | 46 |
| Thyroid-stimulating hormone, beta chain deficiency | 46 |
| Alpha-1 antitrypsin deficiency | 47 |
| Hemorrhagic disease due to alpha-1 antitrypsin Pittsburg mutation | 47 |
| Alpha thalassemia - intellectual deficit, X-linked | 48 |
| Carpenter-Waziri syndrome | 48 |
| Chudley-Lowry-Hoar syndrome | 48 |
| Holmes-Gang syndrome | 48 |
| Intellectual deficit, X-linked - hypotonic face | 48 |
| Intellectual deficit, X-linked, Cabezas type | 48 |
| Intellectual deficit, X-linked, Wei type | 48 |
| Juberg-Marsidi syndrome | 48 |
| Smith-Fineman-Myers syndrome | 48 |
| Alport syndrome | 49 |
| Diffuse leiomyomatosis - Alport syndrome X-linked | 49 |
| Alpha-N-acetylgalactosaminidase deficiency, type 1 | 50 |
| N-acetyl-alpha-D-galactosaminidase deficiency | 50 |
| Alpers syndrome | 51 |
| Ataxia, mitochondrial recessive, syndrome | 51 |
| Infantile onset spinocerebellar ataxia | 51 |
| Mitochondrial DNA depletion syndrome | 51 |
| Myoneurogastrointestinal encephalopathy syndrome | 51 |
| Progressive external ophthalmoplegia | 51 |
| Sensory ataxic neuropathy - dysarthria - ophthalmoparesis | 51 |
| Alopecia universalis | 52 |
| Atrichia with papular lesions | 52 |
| Marie Unna congenital hypotrichosis | 52 |
| Aicardi-Goutieres syndrome | 53 |
| Cerebroretinal vasculopathy | 53 |
| Hereditary vascular retinopathy | 53 |
| Lupus erythematosus, cutaneous | 53 |
| Lupus, chilblain | 53 |
| Albers-Schonberg osteopetrosis | 54 |
| Autosomal recessive malignant osteopetrosis | 54 |
| Expansile osteolysis, familial form | 54 |
| Osteopetrosis - hypogammaglobulinemia | 54 |
| ADULT syndrome | 55 |
| Ankyloblepharon - ectodermal defects - cleft lip palate | 55 |
| Bakrania-Ragge syndrome | 55 |
| Cleft lip with or without cleft palate | 55 |
| EEC syndrome | 55 |
| Limb-mammary syndrome | 55 |
| Pterygium popliteal syndrome, autosomal dominant | 55 |
| Rapp-Hodgkin syndrome | 55 |
| Split hand - split foot | 55 |
| Split hand - split foot - deafness | 55 |
| Van Der Woude syndrome | 55 |
| Zlotogora-Ogur syndrome | 55 |
| Allan-Herndon-Dudley syndrome | 56 |
| Autosomal dominant spastic paraplegia, type 13 | 56 |
| Intellectual deficit, X-linked - Spastic paraplegia with iron deposits | 56 |
| Pelizaeus-Merzbacher disease | 56 |
| X-linked spastic paraplegia, type 2 | 56 |
| Albright hereditary osteodystrophy | 57 |
| Ectopic ossification, familial type | 57 |
| Fibrous dysplasia of bone | 57 |
| McCune-Albright syndrome | 57 |
| Pseudohypoparathyroidism, type 1A | 57 |
| Pseudohypoparathyroidism, type 1C | 57 |
| Pseudopseudohypoparathyroidism | 57 |
| Acro-renal-ocular syndrome | 58 |
| IVIC syndrome | 58 |
| Okihiro syndrome | 58 |
| Action myoclonus - renal failure syndrome | 59 |
| Severe combined immunodeficiency T- B+ | 59 |
| Acrokeratosis verruciformis of Hopf | 60 |
| Darier disease | 60 |
| Acrocephalosyndactyly | 61 |
| Carpenter syndrome | 61 |
| Adrenoleukodystrophy, X-linked | 62 |
| Adrenoleukodystrophy, X-linked, cerebral form | 62 |
| Adrenomyeloneuropathy | 62 |
| Graesbeck-Imerslund disease | 62 |
| Angioedema, hereditary | 63 |
| Atypical hemolytic uremic syndrome | 63 |
| Atypical hemolytic uremic syndrome with C3 anomaly | 63 |
| Atypical hemolytic uremic syndrome with I factor anomaly | 63 |
| Complement component 2 deficiency | 63 |
| Complement regulatory proteins anomaly | 63 |
| Congenital factor XII deficiency | 63 |
| Drusen dominant | 63 |
| Immunodeficiency with a complement cascade protein anomaly | 63 |
| Immunodeficiency with factor H anomaly | 63 |
| Immunodeficiency with factor I anomaly | 63 |
| Membranoproliferative glomerulonephritis | 63 |
| Autosomal dominant limb-girdle muscular dystrophy, type 1A | 64 |
| Myotilinopathy | 64 |
| Autosomal dominant hypohidrotic ectodermal dysplasia | 65 |
| Christ-Siemens-Touraine syndrome | 65 |
| Ectodermal dysplasia, hypohidrotic, autosomal recessive | 65 |
| Hypodontia | 65 |
| Hypodontia - dysplasia of nails | 65 |
| Odonto-onycho-dermal dysplasia | 65 |
| Schopf-Schulz-Passarge syndrome | 65 |
| Tessier number 5 facial cleft | 65 |
| Autosomal dominant severe congenital neutropenia | 66 |
| Neutropenia cyclic | 66 |
| Neutropenia, congenital | 66 |
| Neutropenia, idiopathic, adult form | 66 |
| Autosomal dominant optic atrophy, OPA1 type | 67 |
| Deafness-optic atrophy syndrome | 67 |
| Optic atrophy | 67 |
| Treft-Sanborn-Carey syndrome | 67 |
| Autosomal recessive limb-girdle muscular dystrophy, type 2B | 68 |
| Congenital myopathy, Paradas type | 68 |
| Distal myopathy with anterior tibial onset | 68 |
| Miyoshi myopathy | 68 |
| Autosomal dominant spastic paraplegia, type 17 | 69 |
| Lipodystrophy, Berardinelli type | 69 |
| Paraparesis amyotrophy of hands and feet | 69 |
| Autosomal recessive spastic paraplegia, type 5A | 70 |
| Bile acid synthesis defect with cholestasis and malabsorption | 70 |
| Bile acid synthesis defect, congenital, type 1 | 70 |
| Bile acid synthesis defect, congenital, type 2 | 70 |
| Bile acid synthesis defect, congenital, type 3 | 70 |
| Bile acid synthesis defect, congenital, type 4 | 70 |
| Hereditary motor and sensory neuropathy | 70 |
| Ataxia, episodic, type 1 | 71 |
| Hereditary continuous muscle fiber activity | 71 |
| Isolated dominant hypomagnesemia | 71 |
| Magnesium wasting, renal | 71 |
| Ataxia, cerebellar, autosomal dominant, type 3 | 72 |
| Ataxia, spinocerebellar, type 4 | 72 |
| Ataxia - deafness - optic atrophy, lethal | 73 |
| Charcot-Marie-Tooth disease, X-linked | 73 |
| Phosphoribosylpyrophosphate synthetase superactivity | 73 |
| X-linked Charcot-Marie-Tooth disease, type 1 | 73 |
| X-linked Charcot-Marie-Tooth disease, type 5 | 73 |
| Ataxia-telangiectasia | 74 |
| Mantle cell lymphoma | 74 |
| Ataxia, spinocerebellar, type 15 | 75 |
| Ataxia, spinocerebellar, type 16 | 75 |
| Athabaskan brainstem dysgenesis syndrome | 76 |
| Bosley-Salih-Alorainy syndrome | 76 |
| Atrial myxoma, familial | 77 |
| Carney complex | 77 |
| Primary pigmented nodular adrenocortical disease | 77 |
| Trismus - pseudocamptodactyly | 77 |
| Anotia | 78 |
| Bilateral microtia - deafness - cleft palate | 78 |
| Ankylosis of teeth | 79 |
| Chondrodysplasia, Blomstrand type | 79 |
| Eiken syndrome | 79 |
| Enchondromatosis | 79 |
| Metaphyseal chondrodysplasia, Jansen type | 79 |
| Aromatase deficiency | 80 |
| Aromatase excess syndrome | 80 |
| Arthrogryposis, lethal - anterior horn cell disease | 81 |
| Contracture syndrome, lethal, congenital type 1 | 81 |
| Amegakaryocytic thrombocytopenia, congenital | 82 |
| Thrombocytosis, familial | 82 |
| Amelia, autosomal recessive | 83 |
| Tetraamelia - pulmonary hypoplasia | 83 |
| Androgen insensitivity syndrome | 84 |
| Kennedy disease | 84 |
| Angio-osteohypertrophic syndrome | 85 |
| Capillary malformation-arteriovenous malformation | 85 |
| Distal myopathy, Nonaka type | 86 |
| Sialuria French type | 86 |
| Dyserythropoietic anemia, congenital | 87 |
| Dyserythropoietic anemia, congenital, type I | 87 |
| Dyserythropoietic anemia, congenital, type II | 87 |
| Dyggve-Melchior-Clausen disease | 88 |
| Smith-McCort dysplasia | 88 |
| Dentin dysplasia | 89 |
| Dentinogenesis imperfecta | 89 |
| Dentinogenesis imperfecta type 2 | 89 |
| Dentinogenesis imperfecta type 3 | 89 |
| Diabetes insipidus, nephrogenic | 90 |
| Inappropriate antidiuretic hormone secretion syndrome | 90 |
| Distal hereditary motor neuropathy, type 7 | 91 |
| Perry syndrome | 91 |
| Diphosphoglycerate mutase deficiency of erythrocyte | 92 |
| Erythrocytosis | 92 |
| Cystinuria | 93 |
| Hypotonia - cystinuria syndrome | 93 |
| Deafness - opticoacoustic nerve atrophy - dementia | 94 |
| Mohr-Tranebjaerg syndrome | 94 |
| Dent syndrome | 95 |
| Lowe syndrome | 95 |
| Chondrosarcoma | 96 |
| Craniosynostosis, Boston type | 96 |
| Exostoses, multiple | 96 |
| Langer-Giedion syndrome | 96 |
| Parietal foramina | 96 |
| Potocki-Shaffer syndrome | 96 |
| Trichorhinophalangeal syndrome, type 1 and 3 | 96 |
| Creutzfeldt-Jakob disease | 97 |
| Gerstmann-Straussler-Scheinker syndrome | 97 |
| Huntington disease-like 1 | 97 |
| Insomnia, familial fatal | 97 |
| Cylindromatosis, familial | 98 |
| Trichoepithelioma multiple, familial | 98 |
| Congenital deficiency in alpha-fetoprotein | 99 |
| Hereditary persistence of alpha-fetoprotein | 99 |
| Congenital bilateral absence of vas deferens | 100 |
| Cystic fibrosis | 100 |
| Hereditary chronic pancreatitis | 100 |
| Common variable immunodeficiency | 101 |
| Immunoglobulin A deficiency | 101 |
| Congenital insensitivity to pain | 102 |
| Erythromelalgia | 102 |
| Paroxysmal extreme pain disorder | 102 |
| Primary erythermalgia | 102 |
| Congenital factor V deficiency | 103 |
| Resistance to activated protein C | 103 |
| Coats disease | 104 |
| Exudative retinopathy, familial | 104 |
| Norrie disease | 104 |
| Osteopetrosis, autosomal dominant, type 1 | 104 |
| Osteoporosis - pseudoglioma | 104 |
| Osteosclerosis - developmental delay - craniosynostosis | 104 |
| Osteosclerosis, autosomal dominant, Worth type | 104 |
| Retinopathy of prematurity | 104 |
| Combined pituitary hormone deficiencies, genetic forms | 105 |
| Intellectual deficit, X-linked, with isolated growth hormone deficiency | 105 |
| Cold-induced sweating syndrome | 106 |
| Crisponi syndrome | 106 |
| Chronic myeloproliferative disease | 107 |
| Chronic myeloproliferative disease, unclassified | 107 |
| Idiopathic hypereosinophilic syndrome | 107 |
| Leukemia, myelomonocytic, chronic | 107 |
| Myelodysplastic/myeloproliferative disease | 107 |
| Myeloid neoplasm associated with PDGFRB rearrangement | 107 |
| CINCA syndrome | 108 |
| Familial cold urticaria | 108 |
| Muckle-Wells syndrome | 108 |
| Chondrodysplasia punctata, rhizomelic type | 109 |
| Refsum disease | 109 |
| Chondrodysplasia punctata, brachytelephalangic | 110 |
| Chondrodysplasia punctata, nonrhizomelic type | 110 |
| X-linked dominant chondrodysplasia punctata | 110 |
| Caudal regression sequence | 111 |
| Familial caudal dysgenesis | 111 |
| Homocystinuria due to methylenetetrahydrofolate reductase deficiency | 111 |
| Methylcobalamin deficiency, cbl G type | 111 |
| Neural tube defect | 111 |
| Spina bifida | 111 |
| Chondrocalcinosis, familial articular | 112 |
| Craniometaphyseal dysplasia | 112 |
| Cholesteryl ester storage disease | 113 |
| Wolman disease | 113 |
| Cataract - intellectual deficit - hypogonadism | 114 |
| Micro syndrome | 114 |
| Buschke-Ollendorff syndrome | 115 |
| Melorheostosis | 115 |
| Osteopoikilosis, isolated | 115 |
| Calcinosis, tumoral | 116 |
| Vitamin D resistant rickets | 116 |
| Boichis disease | 117 |
| Polycystic kidney disease, autosomal recessive | 117 |
| Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | 118 |
| Vitamin K-dependent clotting factors, combined deficiency of | 118 |
| Blepharospasm | 119 |
| Cervical dystonia | 119 |
| Blepharophimosis - epicanthus inversus - ptosis | 120 |
| Fragile X syndrome | 120 |
| Fragile X-associated tremor/ataxia syndrome | 120 |
| Hypergonadotropic ovarian dysgenesis | 120 |
| Ovarian hyperstimulation syndrome | 120 |
| Premature ovarian failure | 120 |
| Birt-Hogg-Dube syndrome | 121 |
| Spontaneous pneumothorax familial type | 121 |
| Biermer disease | 122 |
| Megaloblastic anemia due to inadequate secretion of intrinsic factor | 122 |
| Bicuspid aortic valve | 123 |
| Leukemia, T-cell prolymphocytic | 123 |
| Beta-thalassemia | 124 |
| Heinz body anemia | 124 |
| Hemoglobin C disease | 124 |
| Hemoglobin E disease | 124 |
| Sickle cell anemia | 124 |
| Best disease | 125 |
| Retinopathy, Burgess-Black type | 125 |
| Bernard-Soulier syndrome | 126 |
| Pseudo-Von Willebrand disease | 126 |
| Benign familial epilepsy of childhood with rolandic spikes | 127 |
| Polymicrogyria | 127 |
| Polymicrogyria, bilateral, perisylvian | 127 |
| Rolandic epilepsy - speech dyspraxia | 127 |
| Severe combined immunodeficiency - microcephaly - growth retardation - sensitivity to ionizing radiation | 127 |
| Beckwith-Wiedemann syndrome | 128 |
| Hemihypertrophy | 128 |
| Silver-Russell syndrome | 128 |
| Sotos syndrome | 128 |
| Weaver syndrome | 128 |
| Weaver-like syndrome | 128 |
| Basal ganglia disease, biotin-responsive | 129 |
| Thiamine-responsive encephalopathy | 129 |
| Baller-Gerold syndrome | 130 |
| RAPADILINO syndrome | 130 |
| Rothmund-Thomson syndrome | 130 |
| Poikiloderma of Kindler | 131 |
| Poikiloderma, hereditary acrokeratotic, Weary type | 131 |
| Prolactinoma, familial | 132 |
| Somatotroph adenoma | 132 |
| Protein S acquired deficiency | 133 |
| Protein S deficiency | 133 |
| Proximal myotonic myopathy | 134 |
| Steinert myotonic dystrophy | 134 |
| Pseudohypoaldosteronism, type 2 | 135 |
| Pseudohypoaldosteronism, type 2C | 135 |
| Radio-ulnar synostosis | 136 |
| Radio-ulnar synostosis - amegakaryocytic thrombocytopenia | 136 |
| Renal tubular acidosis, proximal, pure, familial | 137 |
| Renal tubular acidosis, proximal, with ocular abnormalities and intellectual deficit | 137 |
| Scleroderma | 138 |
| Scleroderma, systemic | 138 |
| Thrombocytopenia, X-linked | 139 |
| Wiskott-Aldrich syndrome | 139 |
| X-linked severe congenital neutropenia | 139 |
| Thrombotic thrombocytopenic purpura | 140 |
| Thrombotic thrombocytopenic purpura, congenital, due to ADAMTS-13 deficiency | 140 |
| Von Willebrand disease | 141 |
| Von Willebrand disease, type 1 | 141 |
| Von Willebrand disease, type 2 | 141 |
| Von Willebrand disease, type 2A | 141 |
| Von Willebrand disease, type 2B | 141 |
| Von Willebrand disease, type 2M | 141 |
| Von Willebrand disease, type 2N | 141 |
| Von Willebrand disease, type 3 | 141 |
| Microcephalic osteodysplastic primordial short stature, type 2 | 142 |
| Seckel syndrome | 142 |
| Methylmalonic acidemia - homocystinuria | 143 |
| Methylmalonicacidemia - homocystinuria, type cbl C | 143 |
| Methylmalonicacidemia - homocystinuria, type cbl D | 143 |
| Methylmalonicacidemia - homocystinuria, type cbl F | 143 |
| Mucolipidosis type 2 | 144 |
| Mucolipidosis type 3 | 144 |
| Microdontia - type I microtia - deafness | 145 |
| Otodental syndrome | 145 |
| Myelofibrosis with myeloid metaplasia | 146 |
| Polycythemia vera | 146 |
| Thrombocythemia, essential | 146 |
| Mucopolysaccharidosis type 6 | 147 |
| Mucosulfatidosis | 147 |
| Nephrotic syndrome, idiopathic, steroid-resistant, with diffuse mesangial sclerosis, familial form | 148 |
| Nephrotic syndrome, idiopathic, steroid-resistant, with focal segmental hyalinosis, familial form | 148 |
| Nanism due to growth hormone qualitative anomaly | 149 |
| Nonacquired isolated growth hormone deficiency | 149 |
| Niemann-Pick disease | 150 |
| Niemann-Pick disease, type A | 150 |
| Niemann-Pick disease, type B | 150 |
| Nonacquired combined pituitary hormone deficiency | 151 |
| Septooptic dysplasia | 151 |
| Nodulosis-arthropathy-osteolysis syndrome | 152 |
| Torg-Winchester syndrome | 152 |
| Nystagmus, idiopathic, congenital | 153 |
| Ocular albinism, X-linked recessive | 153 |
| Nonsyndromic thrombocytopenia | 154 |
| Thrombocytopenia - chromosome breakage | 154 |
| Overhydrated hereditary stomatocytosis | 155 |
| Rh deficiency syndrome | 155 |
| Oligomeganephronia | 156 |
| Papillo-renal syndrome | 156 |
| Kenny-Caffey syndrome | 157 |
| Kenny-Caffey syndrome, autosomal recessive | 157 |
| Sanjad-Sakati syndrome | 157 |
| Intellectual deficit X-linked, Sutherland-Haan type | 158 |
| Intellectual deficit, X-linked, Golabi-Ito-Hall type | 158 |
| Renpenning syndrome | 158 |
| Intellectual deficit, X-linked - monoamine oxidase A metabolism anomaly | 159 |
| Monoamine oxidase-A deficiency | 159 |
| Leukocyte adhesion deficiency | 160 |
| Leukocyte adhesion deficiency, type I | 160 |
| Leukocyte adhesion deficiency, type II | 160 |
| Leukocyte adhesion deficiency, type III | 160 |
| Langer mesomelic dysplasia | 161 |
| Leri-Weill dyschondrosteosis | 161 |
| Short stature, idiopathic | 161 |
| Lissencephaly due to LIS1 mutation | 162 |
| Miller-Dieker syndrome | 162 |
| Lissencephaly syndrome, Norman-Roberts type | 163 |
| Microlissencephaly | 163 |
| Leydig cell hypoplasia | 164 |
| Testotoxicosis | 164 |
| Mayer-Rokitansky-Kuester-Hauser syndrome | 165 |
| SERKAL syndrome | 165 |
| Lymphedema - distichiasis | 166 |
| Lymphedema - ptosis | 166 |
| Yellow nail syndrome | 166 |
| Hurler syndrome | 167 |
| Hurler-Scheie syndrome | 167 |
| Mucopolysaccharidosis type 1 | 167 |
| Scheie syndrome | 167 |
| Hereditary sensory and autonomic neuropathy, type 4 | 168 |
| Hereditary sensory and autonomic neuropathy, type 5 | 168 |
| Hereditary methemoglobinemia | 169 |
| Recessive hereditary methemoglobinemia type 1 | 169 |
| Recessive hereditary methemoglobinemia type 2 | 169 |
| Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia | 170 |
| Sporadic inclusion body myositis | 170 |
| Hyperimmunoglobinemia D with recurrent fever | 171 |
| Mevalonicaciduria | 171 |
| Hyperekplexia - epilepsy | 172 |
| X-linked neuromuscular intellectual deficit | 172 |
| Hyaline fibromatosis, juvenile | 173 |
| Hyalinosis, infantile systemic | 173 |
| Hyperparathyroidism, neonatal severe, primary | 174 |
| Hypocalcemia, autosomal dominant | 174 |
| Hypocalciuric hypercalcemia, familial | 174 |
| Hypoparathyroidism, familial, isolated | 174 |
| Hyperlysinemia | 175 |
| Saccharopinuria | 175 |
| Hypoplasminogenemia | 176 |
| Ligneous conjunctivitis | 176 |
| Hyperprolinemia type I | 177 |
| Schizophrenia | 177 |
| Hartnup syndrome | 178 |
| Iminoglycinuria | 178 |
| Hawkinsinuria | 179 |
| Tyrosinemia, type 3 | 179 |
| Heart-hand syndrome type 2 | 180 |
| Holt-Oram syndrome | 180 |
| Schinzel syndrome | 180 |
| Growth delay due to insulin-like growth factor I deficiency | 181 |
| Short stature due to growth hormone resistance | 181 |
| Haim-Munk syndrome | 182 |
| Papillon-Lefevre syndrome | 182 |
| Hand-foot-uterus syndrome | 183 |
| Preaxial deficiency - postaxial polydactyly - hypospadias | 183 |
| Hemophilia | 184 |
| Hemophilia A | 184 |
| Hemophilia B | 184 |
| Mild hemophilia A | 184 |
| Mild hemophilia B | 184 |
| Moderately severe hemophilia A | 184 |
| Moderately severe hemophilia B | 184 |
| Severe hemophilia A | 184 |
| Severe hemophilia B | 184 |
| Symptomatic form of hemophilia A in female carriers | 184 |
| Symptomatic form of hemophilia B in female carriers | 184 |
| Fuhrmann syndrome | 185 |
| Phocomelia, Schinzel type | 185 |
| GM1 gangliosidosis | 186 |
| Gangliosidosis GM1, type 1 | 186 |
| Gangliosidosis GM1, type 3 | 186 |
| Mucopolysaccharidosis type 4 | 186 |
| Fumaric aciduria | 187 |
| Leiomyomatosis, familial | 187 |
| Fish-eye disease | 188 |
| LCAT deficiency | 188 |
| Generalized resistance to thyroid hormone | 189 |
| Resistance to thyrotropin-releasing hormone syndrome | 189 |
| Selective pituitary resistance to thyroid hormone | 189 |
| Glanzmann thrombasthenia | 190 |
| Macrothrombocytopenia with abnormal proplatelet formation, autosomal dominant | 190 |
| Encephalopathy due to prosaposin deficiency | 191 |
| Gaucher disease | 191 |
| Gaucher disease - ophthalmoplegia - cardiovascular calcification | 191 |
| Gaucher disease, type 1 | 191 |
| Gaucher disease, type 2 | 191 |
| Gaucher disease, type 3 | 191 |
| Metachromatic leukodystrophy | 191 |
| Perinatal-lethal Gaucher disease | 191 |
| Pseudoarylsulfatase A deficiency | 191 |
| Elliptocytosis, common, hereditary | 192 |
| Elliptocytosis, hereditary | 192 |
| Pyropoikilocytosis, hereditary | 192 |
| Renal tubular acidosis, distal | 192 |
| Spherocytosis hereditary | 192 |
| Familial hypomagnesemia with hypercalciuria and nephrocalcinosis | 193 |
| Hypomagnesemia with normocalciuria | 193 |
| Familial dementia, British type | 194 |
| Familial dementia, Danish type | 194 |
| Familial hematuria, autosomal dominant - retinal arteriolar tortuosity - contractures | 195 |
| Porencephaly | 195 |
| Erythrokeratodermia, progressive symmetric | 196 |
| Vohwinkel syndrome - ichthyosis | 196 |
| Dystonia-parkinsonism, Paisan-Ruiz type | 197 |
| HARP syndrome | 197 |
| Hyperferritinemia, hereditary, with congenital cataracts | 197 |
| Infantile neuroaxonal dystrophy | 197 |
| Neurodegeneration with brain iron accumulation | 197 |
| Neuroferritinopathy | 197 |
| Pantothenate-kinase-associated neurodegeneration | 197 |
| Early infantile epileptic encephalopathy | 198 |
| Early myoclonic encephalopathy | 198 |
| Dystonia, dopa-responsive | 199 |
| Dystonia, dopa-responsive, autosomal dominant | 199 |
| Dystonia, dopa-responsive, autosomal recessive | 199 |
| GTP cyclohydrolase I deficiency | 199 |
| Dyssegmental dysplasia, Silverman-Handmaker type | 200 |
| Schwartz-Jampel syndrome | 200 |
| Dyskinesia, paroxysmal exertion-induced | 201 |
| Encephalopathy due to GLUT1 deficiency | 201 |
| Elejalde syndrome | 202 |
| Griscelli disease | 202 |
| Ehlers-Danlos syndrome, type 6 | 203 |
| Nevo syndrome | 203 |
| Ehlers-Danlos syndrome | 204 |
| Ehlers-Danlos syndrome, spondylocheiro dysplastic type | 204 |
| Ehlers-Danlos syndrome, type 10 | 204 |
| EEM syndrome | 205 |
| Macular degeneration, juvenile - hypotrichosis | 205 |
| Ectodermal dysplasia - anhidrotic, with immunodeficiency - osteopetrosis - lymphedema | 206 |
| Hyper-IgM syndrome | 206 |
| Hyper-IgM syndrome, autosomal recessive | 206 |
| Incontinentia pigmenti | 206 |
| Early onset torsion dystonia | 207 |
| Myoclonic dystonia | 207 |
