| 2-aminoadipic 2-oxoadipic aciduria | 2 | Apr 12, 2024 |
| 3-Methylglutaconic aciduria type 3 | 1 | Apr 12, 2024 |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 1 | Apr 12, 2024 |
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | 1 | Apr 12, 2024 |
| 3MC syndrome | 1 | Apr 12, 2024 |
| ALS2-related motor neuron disease | 2 | Apr 12, 2024 |
| ATP1A3-associated neurological disorder | 1 | Apr 12, 2024 |
| Acrocallosal syndrome | 1 | Apr 12, 2024 |
| Acute intermittent porphyria | 2 | Apr 12, 2024 |
| Adult polyglucosan body disease | 1 | Apr 12, 2024 |
| Al-Raqad syndrome | 1 | Apr 12, 2024 |
| Alanine glyoxylate aminotransferase deficiency | 1 | Apr 12, 2024 |
| Alkuraya-Kucinskas syndrome | 2 | Feb 1, 2022 |
| Alpha-1-antitrypsin deficiency | 1 | Apr 12, 2024 |
| Alpha-actinopathy | 1 | Apr 12, 2024 |
| Alport syndrome | 9 | Apr 12, 2024 |
| Alstrom syndrome | 4 | Apr 12, 2024 |
| Alzheimer disease 3 | 2 | Apr 12, 2024 |
| Amyotrophic lateral sclerosis | 6 | Apr 12, 2024 |
| Amyotrophic lateral sclerosis type 1 | 3 | Apr 12, 2024 |
| Amyotrophic lateral sclerosis type 12 | 2 | Apr 12, 2024 |
| Amyotrophic lateral sclerosis type 15 | 1 | Apr 12, 2024 |
| Amyotrophic lateral sclerosis type 23 | 1 | Apr 12, 2024 |
| Amyotrophic lateral sclerosis type 4 | 1 | Apr 12, 2024 |
| Amyotrophic lateral sclerosis type 6 | 1 | Apr 12, 2024 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 1 | Apr 12, 2024 |
| Anterior segment dysgenesis 7 | 1 | Apr 12, 2024 |
| Aortic aneurysm, familial thoracic 6 | 1 | Apr 12, 2024 |
| Aortic aneurysm, familial thoracic 7 | 2 | Apr 12, 2024 |
| Aortic valve disease 1 | 1 | Apr 12, 2024 |
| Aortic valve disease 3 | 1 | Apr 12, 2024 |
| Argininosuccinate lyase deficiency | 1 | Apr 12, 2024 |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 5 | Apr 12, 2024 |
| Arrhythmogenic right ventricular cardiomyopathy | 3 | Apr 12, 2024 |
| Arrhythmogenic right ventricular dysplasia 5 | 1 | Apr 12, 2024 |
| Arthrogryposis multiplex congenita 3, myogenic type | 1 | Apr 12, 2024 |
| Asphyxiating thoracic dystrophy 3 | 1 | Apr 12, 2024 |
| Ataxia-telangiectasia syndrome | 3 | Apr 12, 2024 |
| Atrial conduction disease | 2 | Apr 12, 2024 |
| Atrial septal defect 3 | 1 | Apr 12, 2024 |
| Atrial septal defect 6 | 1 | Apr 12, 2024 |
| Autosomal dominant Alport syndrome | 4 | Apr 12, 2024 |
| Autosomal dominant Charcot-Marie-Tooth disease type 2W | 1 | Apr 12, 2024 |
| Autosomal dominant Parkinson disease 1 | 2 | Apr 12, 2024 |
| Autosomal dominant cerebellar ataxia | 3 | Apr 12, 2024 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 | Apr 12, 2024 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 | Apr 12, 2024 |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 1 | Apr 12, 2024 |
| Autosomal dominant hypocalcemia | 1 | Apr 12, 2024 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 2 | Apr 12, 2024 |
| Autosomal dominant medullary cystic kidney disease with or without hyperuricemia | 3 | Apr 12, 2024 |
| Autosomal dominant mitochondrial myopathy with exercise intolerance | 1 | Apr 12, 2024 |
| Autosomal dominant nonsyndromic hearing loss 11 | 1 | Apr 12, 2024 |
| Autosomal dominant polycystic kidney disease | 15 | Apr 12, 2024 |
| Autosomal dominant slowed nerve conduction velocity | 2 | Apr 12, 2024 |
| Autosomal recessive Alport syndrome | 9 | Apr 12, 2024 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 2 | Apr 12, 2024 |
| Autosomal recessive ataxia, Beauce type | 1 | Apr 12, 2024 |
| Autosomal recessive bestrophinopathy | 3 | Apr 12, 2024 |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 4 | Apr 12, 2024 |
| Autosomal recessive congenital ichthyosis 9 | 1 | Apr 12, 2024 |
| Autosomal recessive early-onset Parkinson disease 6 | 1 | Apr 12, 2024 |
| Autosomal recessive inherited pseudoxanthoma elasticum | 1 | Apr 12, 2024 |
| Autosomal recessive juvenile Parkinson disease 2 | 2 | Apr 12, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy | 4 | Apr 12, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 3 | Apr 12, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 | Apr 12, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 1 | Apr 12, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 3 | Apr 12, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 1 | Apr 12, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | 1 | Apr 12, 2024 |
| Autosomal recessive nonsyndromic hearing loss 1A | 1 | Apr 12, 2024 |
| Autosomal recessive nonsyndromic hearing loss 29 | 1 | Apr 12, 2024 |
| Autosomal recessive nonsyndromic hearing loss 9 | 3 | Apr 12, 2024 |
| Autosomal recessive polycystic kidney disease | 1 | Apr 12, 2024 |
| Autosomal recessive progressive external ophthalmoplegia | 1 | Apr 12, 2024 |
| Autosomal recessive spinocerebellar ataxia 15 | 2 | Apr 12, 2024 |
| Autosomal recessive spinocerebellar ataxia 17 | 3 | Apr 12, 2024 |
| Autosomal semi-dominant severe lipodystrophic laminopathy | 1 | Apr 12, 2024 |
| Baraitser-Winter syndrome 1 | 1 | Apr 12, 2024 |
| Baraitser-winter syndrome 2 | 1 | Apr 12, 2024 |
| Bardet-Biedl syndrome 1 | 2 | Apr 12, 2024 |
| Bartter disease type 2 | 1 | Apr 12, 2024 |
| Basal ganglia calcification, idiopathic, 5 | 1 | Apr 12, 2024 |
| Beck-Fahrner syndrome | 2 | Apr 12, 2024 |
| Beta-D-mannosidosis | 1 | Apr 12, 2024 |
| Bethlem myopathy 1A | 2 | Apr 12, 2024 |
| Bietti crystalline corneoretinal dystrophy | 1 | Apr 12, 2024 |
| Biotinidase deficiency | 1 | Apr 12, 2024 |
| Blau syndrome | 1 | Apr 12, 2024 |
| Bone fragility with contractures, arterial rupture, and deafness | 1 | Apr 12, 2024 |
| Brachydactyly | 1 | Apr 12, 2024 |
| Brachydactyly type B1 | 1 | Apr 12, 2024 |
| Brain small vessel disease 1 with or without ocular anomalies | 2 | Apr 12, 2024 |
| Breast neoplasm | 1 | Apr 12, 2024 |
| Brittle cornea syndrome 1 | 1 | Apr 12, 2024 |
| Brody myopathy | 1 | Apr 12, 2024 |
| Brugada syndrome | 2 | Apr 12, 2024 |
| COACH syndrome 1 | 1 | Apr 12, 2024 |
| COG4-congenital disorder of glycosylation | 1 | Apr 12, 2024 |
| COG7 congenital disorder of glycosylation | 1 | Apr 12, 2024 |
| CPOX-related hereditary coproporphyria | 1 | Apr 12, 2024 |
| Capillary malformation-arteriovenous malformation 1 | 1 | Apr 12, 2024 |
| Capillary malformation-arteriovenous malformation 2 | 7 | Apr 12, 2024 |
| Cardiomyopathy | 2 | Apr 12, 2024 |
| Cardiomyopathy, familial hypertrophic, 28 | 1 | Apr 12, 2024 |
| Carey-Fineman-Ziter syndrome 1 | 1 | Apr 12, 2024 |
| Carnitine palmitoyl transferase II deficiency, myopathic form | 3 | Apr 12, 2024 |
| Cataract 14 multiple types | 1 | Apr 12, 2024 |
| Catecholaminergic polymorphic ventricular tachycardia | 3 | Apr 12, 2024 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 1 | Apr 12, 2024 |
| Caveolinopathy | 1 | Apr 12, 2024 |
| Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 1 | Apr 12, 2024 |
| Centronuclear myopathy | 1 | Apr 12, 2024 |
| Cerebellar ataxia | 1 | Apr 12, 2024 |
| Cerebellar ataxia-hypogonadism syndrome | 3 | Apr 12, 2024 |
| Cerebellar atrophy, developmental delay, and seizures | 1 | Apr 12, 2024 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 7 | Apr 12, 2024 |
| Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | 1 | Apr 12, 2024 |
| Cerebral cavernous malformation 1 | 1 | Apr 12, 2024 |
| Charcot-Marie-Tooth disease | 7 | Apr 12, 2024 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 3 | Apr 12, 2024 |
| Charcot-Marie-Tooth disease axonal type 2N | 1 | Apr 12, 2024 |
| Charcot-Marie-Tooth disease axonal type 2O | 1 | Apr 12, 2024 |
| Charcot-Marie-Tooth disease dominant intermediate D | 1 | Apr 12, 2024 |
| Charcot-Marie-Tooth disease dominant intermediate E | 1 | Apr 12, 2024 |
| Charcot-Marie-Tooth disease type 2 | 1 | Apr 12, 2024 |
| Charcot-Marie-Tooth disease type 2D | 1 | Apr 12, 2024 |
| Charcot-Marie-Tooth disease type 2T | 1 | Apr 12, 2024 |
| Charcot-Marie-Tooth disease type 4A | 1 | Apr 12, 2024 |
| Charcot-Marie-Tooth disease type 4B3 | 2 | Apr 12, 2024 |
| Charcot-Marie-Tooth disease type 4J | 1 | Apr 12, 2024 |
| Charcot-marie-tooth disease, axonal, type 2DD | 1 | Apr 12, 2024 |
| Charlevoix-Saguenay spastic ataxia | 6 | Apr 12, 2024 |
| Child syndrome | 1 | Apr 12, 2024 |
| Chronic pancreatitis | 1 | Apr 12, 2024 |
| Chylomicron retention disease | 1 | Apr 12, 2024 |
| Chédiak-Higashi syndrome | 1 | Apr 12, 2024 |
| Ciliopathy | 3 | Apr 12, 2024 |
| Citrullinemia type I | 2 | Apr 12, 2024 |
| Cockayne syndrome type 2 | 1 | Apr 12, 2024 |
| Coenzyme Q10 deficiency | 1 | Apr 12, 2024 |
| Coffin-Siris syndrome 11 | 1 | Apr 12, 2024 |
| Coffin-Siris syndrome 7 | 1 | Apr 12, 2024 |
| Cohen syndrome | 1 | Apr 12, 2024 |
| Collagen 6-related myopathy | 3 | Apr 12, 2024 |
| Combined deficiency of sialidase AND beta galactosidase | 1 | Apr 12, 2024 |
| Combined immunodeficiency due to MALT1 deficiency | 1 | Apr 12, 2024 |
| Combined oxidative phosphorylation defect type 17 | 1 | Apr 12, 2024 |
| Complex neurodevelopmental disorder | 8 | Apr 12, 2024 |
| Complex neurodevelopmental disorder with or without congenital anomalies | 1 | Apr 12, 2024 |
| Cone-rod dystrophy 13 | 1 | Apr 12, 2024 |
| Cone-rod dystrophy 15 | 1 | Apr 12, 2024 |
| Cone-rod dystrophy 6 | 1 | Apr 12, 2024 |
| Congenital bilateral absence of vas deferens | 1 | Apr 12, 2024 |
| Congenital contractural arachnodactyly | 2 | Apr 12, 2024 |
| Congenital disorder of glycosylation, type 2v | 1 | Apr 12, 2024 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | Apr 12, 2024 |
| Congenital multicore myopathy with external ophthalmoplegia | 1 | Apr 12, 2024 |
| Congenital muscular hypertrophy-cerebral syndrome | 1 | Apr 12, 2024 |
| Congenital myasthenic syndrome 12 | 1 | Apr 12, 2024 |
| Congenital myasthenic syndrome 5 | 1 | Apr 12, 2024 |
| Congenital myotonia, autosomal recessive form | 6 | Apr 12, 2024 |
| Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 1 | Apr 12, 2024 |
| Contractures, pterygia, and variable skeletal fusions syndrome 1B | 1 | Apr 12, 2024 |
| Corneal dystrophy-perceptive deafness syndrome | 1 | Apr 12, 2024 |
| Cornelia de Lange syndrome 1 | 1 | Apr 12, 2024 |
| Cranioectodermal dysplasia 4 | 2 | Apr 12, 2024 |
| Cutis laxa, autosomal dominant 1 | 1 | Apr 12, 2024 |
| Cystic fibrosis | 2 | Apr 12, 2024 |
| DNA ligase IV deficiency | 1 | Apr 12, 2024 |
| Danon disease | 1 | Apr 12, 2024 |
| Decreased HDL cholesterol concentration | 1 | Apr 12, 2024 |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 1 | Apr 12, 2024 |
| Deficiency of acetyl-CoA acetyltransferase | 1 | Apr 12, 2024 |
| Deficiency of alpha-mannosidase | 3 | Apr 12, 2024 |
| Dent disease type 1 | 1 | Apr 12, 2024 |
| Desmin-related myofibrillar myopathy | 1 | Apr 12, 2024 |
| Developmental and epileptic encephalopathy, 11 | 1 | Apr 12, 2024 |
| Developmental and epileptic encephalopathy, 25 | 1 | Apr 12, 2024 |
| Developmental and epileptic encephalopathy, 46 | 1 | Apr 12, 2024 |
| Developmental and epileptic encephalopathy, 7 | 1 | Apr 12, 2024 |
| Developmental and epileptic encephalopathy, 83 | 1 | Apr 12, 2024 |
| Developmental delay with autism spectrum disorder and gait instability | 1 | Apr 12, 2024 |
| Developmental delay with or without dysmorphic facies and autism | 1 | Apr 12, 2024 |
| Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 1 | Apr 12, 2024 |
| Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | 1 | Apr 12, 2024 |
| Developmental malformations-deafness-dystonia syndrome | 1 | Apr 12, 2024 |
| Dihydropyrimidinase deficiency | 1 | Apr 12, 2024 |
| Dihydropyrimidine dehydrogenase deficiency | 1 | Apr 12, 2024 |
| Dilated cardiomyopathy 1G | 2 | Apr 12, 2024 |
| Disorder of cardiovascular system | 1 | Apr 12, 2024 |
| Distal hereditary motor neuropathy type 2 | 1 | Apr 12, 2024 |
| Distal myopathy with posterior leg and anterior hand involvement | 1 | Apr 12, 2024 |
| Distal renal tubular acidosis | 1 | Apr 12, 2024 |
| Distal spinal muscular atrophy | 1 | Apr 12, 2024 |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 1 | Apr 12, 2024 |
| Dyskeratosis congenita | 2 | Apr 12, 2024 |
| Dyskeratosis congenita, autosomal dominant 2 | 1 | Apr 12, 2024 |
| Dyskinesia with orofacial involvement, autosomal dominant | 1 | Apr 12, 2024 |
| Dystonia 28, childhood-onset | 1 | Apr 12, 2024 |
| EPHB4-associated vascular malformation spectrum | 2 | Apr 12, 2024 |
| Early infantile epileptic encephalopathy with suppression bursts | 2 | Apr 12, 2024 |
| Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | 1 | Apr 12, 2024 |
| Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type | 1 | Apr 12, 2024 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 1 | Apr 12, 2024 |
| Ehlers-Danlos syndrome, classic type | 5 | Apr 12, 2024 |
| Ehlers-Danlos syndrome, classic type, 1 | 1 | Apr 12, 2024 |
| Ehlers-Danlos syndrome, dermatosparaxis type | 2 | Apr 12, 2024 |
| Ehlers-Danlos syndrome, dominant type 4 | 1 | Apr 12, 2024 |
| Ehlers-Danlos/osteogenesis imperfecta syndrome | 1 | Apr 12, 2024 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 1 | Apr 12, 2024 |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | 1 | Apr 12, 2024 |
| Epidermolysis bullosa dystrophica | 3 | Apr 12, 2024 |
| Epidermolysis bullosa simplex | 3 | Apr 12, 2024 |
| Epidermolysis bullosa simplex, Ogna type | 2 | Apr 12, 2024 |
| Epidermolytic palmoplantar keratoderma | 1 | Apr 12, 2024 |
| Episodic kinesigenic dyskinesia 1 | 1 | Apr 12, 2024 |
| Erythrokeratodermia variabilis et progressiva 2 | 1 | Apr 12, 2024 |
| Exostoses, multiple, type 2 | 1 | Apr 12, 2024 |
| Exudative vitreoretinopathy 4 | 1 | Apr 12, 2024 |
| FG syndrome | 1 | Apr 12, 2024 |
| Fabry disease | 1 | Apr 12, 2024 |
| Facioscapulohumeral muscular dystrophy 2 | 1 | Apr 12, 2024 |
| Familial Mediterranean fever | 2 | Apr 12, 2024 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 2 | Apr 12, 2024 |
| Familial adenomatous polyposis 2 | 1 | Apr 12, 2024 |
| Familial cancer of breast | 2 | Apr 12, 2024 |
| Familial cylindromatosis | 1 | Apr 12, 2024 |
| Familial hemiplegic migraine | 1 | Apr 12, 2024 |
| Familial hypercholesterolemia | 2 | Apr 12, 2024 |
| Familial hypocalciuric hypercalcemia 1 | 2 | Apr 12, 2024 |
| Familial hypokalemia-hypomagnesemia | 1 | Apr 12, 2024 |
| Familial isolated arrhythmogenic right ventricular dysplasia | 2 | Apr 12, 2024 |
| Familial medullary thyroid carcinoma | 1 | Apr 12, 2024 |
| Familial renal hypouricemia | 2 | Apr 12, 2024 |
| Familial thoracic aortic aneurysm and aortic dissection | 9 | Apr 12, 2024 |
| Fanconi anemia complementation group G | 1 | Apr 12, 2024 |
| Fibrochondrogenesis 1 | 1 | Apr 12, 2024 |
| Fibrous dysplasia of jaw | 1 | Apr 12, 2024 |
| Focal segmental glomerulosclerosis | 1 | Apr 12, 2024 |
| Focal segmental glomerulosclerosis 3, susceptibility to | 1 | Apr 12, 2024 |
| Focal segmental glomerulosclerosis 5 | 1 | Apr 12, 2024 |
| Focal segmental glomerulosclerosis 7 | 1 | Apr 12, 2024 |
| Frontotemporal dementia | 2 | Apr 12, 2024 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 1 | Apr 12, 2024 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 4 | Apr 12, 2024 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 1 | Apr 12, 2024 |
| GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 2 | Apr 12, 2024 |
| Galactosylceramide beta-galactosidase deficiency | 4 | Apr 12, 2024 |
| Gaucher disease due to saposin C deficiency | 1 | Apr 12, 2024 |
| Geleophysic dysplasia | 1 | Apr 12, 2024 |
| Generalized dominant dystrophic epidermolysis bullosa | 2 | Apr 12, 2024 |
| Generalized epilepsy with febrile seizures plus, type 2 | 1 | Apr 12, 2024 |
| Gerstmann-Straussler-Scheinker syndrome | 1 | Apr 12, 2024 |
| Glomuvenous malformation | 1 | Apr 12, 2024 |
| Glucocorticoid deficiency with achalasia | 2 | Apr 12, 2024 |
| Glutamate formiminotransferase deficiency | 2 | Apr 12, 2024 |
| Glutaric aciduria, type 1 | 1 | Apr 12, 2024 |
| Glycogen storage disease | 1 | Apr 12, 2024 |
| Glycogen storage disease due to acid maltase deficiency, late-onset | 1 | Apr 12, 2024 |
| Glycogen storage disease, type II | 1 | Apr 12, 2024 |
| Glycogen storage disease, type IV | 1 | Apr 12, 2024 |
| Glycogen storage disease, type V | 5 | Apr 12, 2024 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | 1 | Apr 12, 2024 |
| Hamartoma of hypothalamus | 1 | Apr 12, 2024 |
| Harel-Yoon syndrome | 1 | Apr 12, 2024 |
| Hearing loss, autosomal dominant 80 | 2 | Apr 12, 2024 |
| Hematuria, benign familial, 1 | 2 | Apr 12, 2024 |
| Hemochromatosis type 1 | 1 | Apr 12, 2024 |
| Hemochromatosis type 2A | 1 | Apr 12, 2024 |
| Hereditary cancer-predisposing syndrome | 1 | Apr 12, 2024 |
| Hereditary cavernous hemangioma of brain | 1 | Apr 12, 2024 |
| Hereditary cerebral hemorrhage with amyloidosis | 1 | Apr 12, 2024 |
| Hereditary hemorrhagic telangiectasia | 19 | Apr 12, 2024 |
| Hereditary peripheral neuropathy | 1 | Apr 12, 2024 |
| Hereditary predisposition to infections | 1 | Apr 12, 2024 |
| Hereditary spastic paraplegia | 1 | Apr 12, 2024 |
| Hereditary spastic paraplegia 11 | 2 | Apr 12, 2024 |
| Hereditary spastic paraplegia 15 | 1 | Apr 12, 2024 |
| Hereditary spastic paraplegia 30 | 3 | Apr 12, 2024 |
| Hereditary spastic paraplegia 39 | 2 | Apr 12, 2024 |
| Hereditary spastic paraplegia 3A | 1 | Apr 12, 2024 |
| Hereditary spastic paraplegia 4 | 8 | Apr 12, 2024 |
| Hereditary spastic paraplegia 54 | 1 | Apr 12, 2024 |
| Hereditary spastic paraplegia 5A | 1 | Apr 12, 2024 |
| Hereditary spastic paraplegia 7 | 5 | Apr 12, 2024 |
| Hereditary spastic paraplegia 77 | 1 | Apr 12, 2024 |
| Hereditary spastic paraplegia 8 | 1 | Apr 12, 2024 |
| Hermansky-Pudlak syndrome 5 | 1 | Apr 12, 2024 |
| Holt-Oram syndrome | 1 | Apr 12, 2024 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 1 | Apr 12, 2024 |
| Hypercalcemia, infantile, 1 | 2 | Apr 12, 2024 |
| Hypercholesterolemia, autosomal dominant, type B | 1 | Apr 12, 2024 |
| Hypercholesterolemia, familial, 1 | 6 | Apr 12, 2024 |
| Hypercholesterolemia, familial, 4 | 1 | Apr 12, 2024 |
| Hyperekplexia 1 | 1 | Apr 12, 2024 |
| Hyperinsulinemic hypoglycemia | 1 | Apr 12, 2024 |
| Hyperinsulinism due to glucokinase deficiency | 1 | Apr 12, 2024 |
| Hyperkalemic periodic paralysis | 1 | Apr 12, 2024 |
| Hyperphosphatasia-intellectual disability syndrome | 1 | Apr 12, 2024 |
| Hypertrophic cardiomyopathy | 20 | Apr 12, 2024 |
| Hypertrophic cardiomyopathy 26 | 1 | Apr 12, 2024 |
| Hypertrophic cardiomyopathy 4 | 2 | Apr 12, 2024 |
| Hypogonadism | 1 | Apr 12, 2024 |
| Hypomyelinating leukodystrophy 11 | 2 | Apr 12, 2024 |
| Hypotrichosis 7 | 1 | Apr 12, 2024 |
| Idiopathic basal ganglia calcification 1 | 1 | Apr 12, 2024 |
| Immunodeficiency 23 | 1 | Apr 12, 2024 |
| Immunodeficiency 32B | 1 | Apr 12, 2024 |
| Immunodeficiency 95 | 1 | Apr 12, 2024 |
| Immunoglobulin-mediated membranoproliferative glomerulonephritis | 1 | Apr 12, 2024 |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | 1 | Apr 12, 2024 |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 1 | Apr 12, 2024 |
| Inflammatory skin and bowel disease, neonatal, 1 | 1 | Apr 12, 2024 |
| Inherited focal segmental glomerulosclerosis | 1 | Apr 12, 2024 |
| Inherited primary ovarian failure | 1 | Apr 12, 2024 |
| Intellectual developmental disorder with autism and macrocephaly | 1 | Apr 12, 2024 |
| Intellectual developmental disorder with seizures and language delay | 1 | Apr 12, 2024 |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 1 | Apr 12, 2024 |
| Intellectual disability | 3 | Apr 12, 2024 |
| Intellectual disability, X-linked syndromic, Turner type | 1 | Apr 12, 2024 |
| Intellectual disability, autosomal dominant 50 | 1 | Apr 12, 2024 |
| Intellectual disability, autosomal dominant 52 | 1 | Apr 12, 2024 |
| Intellectual disability, autosomal dominant 57 | 1 | Apr 12, 2024 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 | Apr 12, 2024 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Apr 12, 2024 |
| Intrinsic cardiomyopathy | 4 | Apr 12, 2024 |
| Joubert syndrome 14 | 2 | Apr 12, 2024 |
| Joubert syndrome 28 | 1 | Apr 12, 2024 |
| Joubert syndrome 3 | 1 | Apr 12, 2024 |
| Joubert syndrome 5 | 1 | Apr 12, 2024 |
| Junctional epidermolysis bullosa | 1 | Apr 12, 2024 |
| Junctional epidermolysis bullosa with pyloric atresia | 1 | Apr 12, 2024 |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 1 | Apr 12, 2024 |
| Juvenile retinoschisis | 1 | Apr 12, 2024 |
| KBG syndrome | 1 | Apr 12, 2024 |
| KIF1A related neurological disorder | 2 | Apr 12, 2024 |
| KINSSHIP syndrome | 1 | Apr 12, 2024 |
| Karyomegalic interstitial nephritis | 1 | Apr 12, 2024 |
| Keratosis follicularis | 1 | Apr 12, 2024 |
| Kindler syndrome | 2 | Apr 12, 2024 |
| Kleefstra syndrome 1 | 1 | Apr 12, 2024 |
| Kleefstra syndrome 2 | 1 | Apr 12, 2024 |
| LRP5-related primary osteoporosis | 1 | Apr 12, 2024 |
| Left ventricular noncompaction | 1 | Apr 12, 2024 |
| Lethal osteosclerotic bone dysplasia | 1 | Apr 12, 2024 |
| Leukoencephalopathy, diffuse hereditary, with spheroids 1 | 1 | Apr 12, 2024 |
| Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 3 | Apr 12, 2024 |
| Liddle syndrome 1 | 1 | Apr 12, 2024 |
| Limb-girdle muscular dystrophy | 1 | Apr 12, 2024 |
| Loeys-Dietz syndrome | 1 | Apr 12, 2024 |
| Long QT syndrome | 2 | Apr 12, 2024 |
| Long QT syndrome 1 | 1 | Apr 12, 2024 |
| Long QT syndrome 2 | 2 | Apr 12, 2024 |
| Long QT syndrome 3 | 1 | Apr 12, 2024 |
| Loricrin keratoderma | 1 | Apr 12, 2024 |
| Lymphangiomyomatosis | 1 | Apr 12, 2024 |
| MME-related autosomal dominant Charcot Marie Tooth disease type 2 | 2 | Apr 12, 2024 |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 1 | Apr 12, 2024 |
| Malignant hyperthermia of anesthesia | 3 | Apr 12, 2024 |
| Malignant hyperthermia, susceptibility to, 1 | 20 | Apr 12, 2024 |
| Malignant hyperthermia, susceptibility to, 5 | 2 | Apr 12, 2024 |
| Mandibuloacral dysplasia with type B lipodystrophy | 1 | Apr 12, 2024 |
| Marfan syndrome | 3 | Apr 12, 2024 |
| Mast syndrome | 2 | Apr 12, 2024 |
| Maturity onset diabetes mellitus in young | 3 | Apr 12, 2024 |
| Maturity-onset diabetes of the young type 1 | 3 | Apr 12, 2024 |
| Maturity-onset diabetes of the young type 10 | 1 | Apr 12, 2024 |
| Maturity-onset diabetes of the young type 11 | 1 | Apr 12, 2024 |
| Maturity-onset diabetes of the young type 14 | 1 | Apr 12, 2024 |
| Maturity-onset diabetes of the young type 2 | 2 | Apr 12, 2024 |
| Maturity-onset diabetes of the young type 3 | 3 | Apr 12, 2024 |
| Maturity-onset diabetes of the young type 4 | 1 | Apr 12, 2024 |
| Metabolic myopathy | 1 | Apr 12, 2024 |
| Metachromatic leukodystrophy, juvenile type | 1 | Apr 12, 2024 |
| Microcephaly-thin corpus callosum-intellectual disability syndrome | 1 | Apr 12, 2024 |
| Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | 2 | Apr 12, 2024 |
| Mild hyperphenylalaninemia | 1 | Apr 12, 2024 |
| Mirror movements 1 | 2 | Apr 12, 2024 |
| Mitochondrial DNA depletion syndrome 1 | 1 | Apr 12, 2024 |
| Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | 1 | Apr 12, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 25 | 1 | Apr 12, 2024 |
| Miyoshi muscular dystrophy 3 | 1 | Apr 12, 2024 |
| Monogenic diabetes | 2 | Apr 12, 2024 |
| Mucopolysaccharidosis type 6 | 1 | Apr 12, 2024 |
| Multiple acyl-CoA dehydrogenase deficiency | 1 | Apr 12, 2024 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 1 | Apr 12, 2024 |
| Multiple epiphyseal dysplasia type 1 | 1 | Apr 12, 2024 |
| Multiple mitochondrial dysfunctions syndrome 3 | 1 | Apr 12, 2024 |
| Multiple self-healing squamous epithelioma | 1 | Apr 12, 2024 |
| Muscular channelopathy | 1 | Apr 12, 2024 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 1 | Apr 12, 2024 |
| Muscular dystrophy-dystroglycanopathy | 1 | Apr 12, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 2 | Apr 12, 2024 |
| Myoclonic dystonia 11 | 1 | Apr 12, 2024 |
| Myoclonic dystonia 26 | 1 | Apr 12, 2024 |
| Myoclonus-dystonia syndrome | 1 | Apr 12, 2024 |
| Myofibrillar myopathy 4 | 1 | Apr 12, 2024 |
| Myofibrillar myopathy 5 | 2 | Apr 12, 2024 |
| Myopathy caused by variation in FKRP | 1 | Apr 12, 2024 |
| Myopathy, lactic acidosis, and sideroblastic anemia 2 | 1 | Apr 12, 2024 |
| Myopia, high, with cataract and vitreoretinal degeneration | 1 | Apr 12, 2024 |
| Nager syndrome | 1 | Apr 12, 2024 |
| Nemaline myopathy | 1 | Apr 12, 2024 |
| Nemaline myopathy 10 | 1 | Apr 12, 2024 |
| Nemaline myopathy 6 | 1 | Apr 12, 2024 |
| Nephrotic syndrome | 3 | Apr 12, 2024 |
| Nephrotic syndrome, type 20 | 1 | Apr 12, 2024 |
| Nephrotic syndrome, type 3 | 1 | Apr 12, 2024 |
| Neurodegeneration | 2 | Apr 12, 2024 |
| Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 2 | Apr 12, 2024 |
| Neurodegeneration with brain iron accumulation 5 | 1 | Apr 12, 2024 |
| Neurodegeneration with brain iron accumulation 6 | 1 | Apr 12, 2024 |
| Neurodevelopmental disorder | 6 | Apr 12, 2024 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 2 | Apr 12, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and variable seizures | 1 | Apr 12, 2024 |
| Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | 1 | Apr 12, 2024 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 1 | Apr 12, 2024 |
| Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | 1 | Apr 12, 2024 |
| Neurofibromatosis, type 1 | 3 | Apr 12, 2024 |
| Neurofibromatosis, type 2 | 1 | Apr 12, 2024 |
| Neuronopathy, distal hereditary motor, type 2B | 1 | Apr 12, 2024 |
| Neuronopathy, distal hereditary motor, type 2D | 1 | Apr 12, 2024 |
| Neuronopathy, distal hereditary motor, type 5C | 1 | Apr 12, 2024 |
| Neuropathy, hereditary sensory and autonomic, type 1C | 1 | Apr 12, 2024 |
| Nicolaides-Baraitser syndrome | 1 | Apr 12, 2024 |
| Niemann-Pick disease, type B | 1 | Apr 12, 2024 |
| Niemann-Pick disease, type C1 | 3 | Apr 12, 2024 |
| Non-immunoglobulin-mediated membranoproliferative glomerulonephritis | 1 | Apr 12, 2024 |
| Nonsyndromic genetic hearing loss | 6 | Apr 12, 2024 |
| Noonan syndrome | 2 | Apr 12, 2024 |
| Noonan syndrome 9 | 1 | Apr 12, 2024 |
| O'Donnell-Luria-Rodan syndrome | 1 | Apr 12, 2024 |
| Oculocutaneous albinism type 1 | 1 | Apr 12, 2024 |
| Odonto-onycho-dermal dysplasia | 1 | Apr 12, 2024 |
| Osteogenesis imperfecta | 6 | Apr 12, 2024 |
| Osteogenesis imperfecta type I | 3 | Apr 12, 2024 |
| Osteogenesis imperfecta, type 18 | 1 | Apr 12, 2024 |
| Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | 1 | Apr 12, 2024 |
| P5CS deficiency | 1 | Apr 12, 2024 |
| PHARC syndrome | 1 | Apr 12, 2024 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 1 | Apr 12, 2024 |
| PPARG-related familial partial lipodystrophy | 1 | Apr 12, 2024 |
| PTEN hamartoma tumor syndrome | 1 | Apr 12, 2024 |
| Pachydermoperiostosis syndrome | 1 | Apr 12, 2024 |
| Palmoplantar keratoderma, Nagashima type | 1 | Apr 12, 2024 |
| Paramyotonia congenita of Von Eulenburg | 1 | Apr 12, 2024 |
| Parenti-mignot neurodevelopmental syndrome | 1 | Apr 12, 2024 |
| Parkinson disease | 5 | Apr 12, 2024 |
| Partial androgen insensitivity syndrome | 3 | Apr 12, 2024 |
| Pericarditis | 1 | Apr 12, 2024 |
| Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 1 | Apr 12, 2024 |
| Periventricular nodular heterotopia 7 | 1 | Apr 12, 2024 |
| Periventricular nodular heterotopia 9 | 1 | Apr 12, 2024 |
| Peroxisome biogenesis disorder | 1 | Apr 12, 2024 |
| Perry syndrome | 1 | Apr 12, 2024 |
| Phenylketonuria | 2 | Apr 12, 2024 |
| Phytanic acid storage disease | 1 | Apr 12, 2024 |
| Pili torti-deafness syndrome | 1 | Apr 12, 2024 |
| Polycystic kidney disease 4 | 2 | Apr 12, 2024 |
| Polycystic kidney disease 6 with or without polycystic liver disease | 1 | Apr 12, 2024 |
| Polycystic kidney disease, adult type | 6 | Apr 12, 2024 |
| Polycystic liver disease 1 | 1 | Apr 12, 2024 |
| Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 1 | Apr 12, 2024 |
| Pontocerebellar hypoplasia type 2E | 1 | Apr 12, 2024 |
| Porencephaly-microcephaly-bilateral congenital cataract syndrome | 1 | Apr 12, 2024 |
| Primary ciliary dyskinesia | 5 | Apr 12, 2024 |
| Primary dilated cardiomyopathy | 30 | Apr 12, 2024 |
| Primary erythromelalgia | 1 | Apr 12, 2024 |
| Primary hypomagnesemia | 1 | Apr 12, 2024 |
| Primary progressive aphasia | 1 | Apr 12, 2024 |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | 1 | Apr 12, 2024 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 2 | Apr 12, 2024 |
| Progressive muscular dystrophy | 2 | Apr 12, 2024 |
| Progressive sclerosing poliodystrophy | 1 | Apr 12, 2024 |
| Progressive supranuclear palsy-parkinsonism syndrome | 1 | Apr 12, 2024 |
| Pulmonary arterial hypertension | 1 | Apr 12, 2024 |
| Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant | 1 | Apr 12, 2024 |
| Qualitative or quantitative defects of alpha-dystroglycan | 1 | Apr 12, 2024 |
| Qualitative or quantitative defects of dysferlin | 1 | Apr 12, 2024 |
| RYR1-related myopathy | 11 | Apr 12, 2024 |
| Radio-Tartaglia syndrome | 1 | Apr 12, 2024 |
| Rajab interstitial lung disease with brain calcifications 2 | 2 | Apr 12, 2024 |
| Recessive dystrophic epidermolysis bullosa | 1 | Apr 12, 2024 |
| Recessive mitochondrial ataxia syndrome | 1 | Apr 12, 2024 |
| Renal carnitine transport defect | 1 | Apr 12, 2024 |
| Renal cysts and diabetes syndrome | 1 | Apr 12, 2024 |
| Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta | 1 | Apr 8, 2022 |
| Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 1 | Apr 12, 2024 |
| Retinitis pigmentosa 1 | 1 | Apr 12, 2024 |
| Retinitis pigmentosa 25 | 1 | Apr 12, 2024 |
| Retinitis pigmentosa 54 | 1 | Apr 12, 2024 |
| Retinitis pigmentosa 62 | 1 | Apr 12, 2024 |
| Retinitis pigmentosa 88 | 2 | Apr 12, 2024 |
| Rienhoff syndrome | 1 | Apr 12, 2024 |
| Ritscher-Schinzel syndrome | 1 | Apr 12, 2024 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 1 | Apr 12, 2024 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 1 | Apr 12, 2024 |
| SCN4A-related myopathy, autosomal recessive | 1 | Apr 12, 2024 |
| SELENON-related myopathy | 1 | Apr 12, 2024 |
| SLC35A1-congenital disorder of glycosylation | 1 | Apr 12, 2024 |
| Schizophrenia 6 | 1 | Apr 12, 2024 |
| Schwannomatosis 2 | 2 | Apr 12, 2024 |
| Schwartz-Jampel syndrome type 1 | 1 | Apr 12, 2024 |
| Semantic dementia | 1 | Apr 12, 2024 |
| Severe combined immunodeficiency due to CARMIL2 deficiency | 2 | Apr 12, 2024 |
| Severe early-childhood-onset retinal dystrophy | 10 | Apr 12, 2024 |
| Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | 1 | Apr 12, 2024 |
| Short-rib thoracic dysplasia 6 with or without polydactyly | 2 | Apr 12, 2024 |
| Sitosterolemia 1 | 1 | Apr 12, 2024 |
| Smith-Lemli-Opitz syndrome | 1 | Apr 12, 2024 |
| Smith-Magenis syndrome | 2 | Apr 12, 2024 |
| Snowflake vitreoretinal degeneration | 1 | Apr 12, 2024 |
| Spastic ataxia | 1 | Apr 12, 2024 |
| Spastic ataxia 2 | 2 | Apr 12, 2024 |
| Spastic paraplegia 82, autosomal recessive | 1 | Apr 12, 2024 |
| Spinocerebellar ataxia 45 | 1 | Apr 12, 2024 |
| Spinocerebellar ataxia 47 | 1 | Apr 12, 2024 |
| Spinocerebellar ataxia 48 | 2 | Apr 12, 2024 |
| Spinocerebellar ataxia type 13 | 1 | Apr 12, 2024 |
| Spinocerebellar ataxia type 37 | 1 | Apr 12, 2024 |
| Spinocerebellar ataxia type 42 | 2 | Apr 12, 2024 |
| Spinocerebellar ataxia type 5 | 2 | Apr 12, 2024 |
| Spinocerebellar ataxia type 6 | 1 | Apr 12, 2024 |
| Spinocerebellar ataxia, autosomal recessive 26 | 1 | Apr 12, 2024 |
| Spondylocarpotarsal synostosis syndrome | 1 | Apr 12, 2024 |
| Spondyloepiphyseal dysplasia, Kimberley type | 1 | Apr 12, 2024 |
| Stargardt disease | 1 | Apr 12, 2024 |
| Steatocystoma multiplex | 1 | Apr 12, 2024 |
| Steroid-resistant nephrotic syndrome | 2 | Apr 12, 2024 |
| Stickler syndrome type 1 | 2 | Apr 12, 2024 |
| Stickler syndrome type 2 | 1 | Apr 12, 2024 |
| Supravalvar aortic stenosis | 1 | Apr 12, 2024 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Apr 12, 2024 |
| Syndromic disease | 1 | Apr 12, 2024 |
| Syndromic intellectual disability | 4 | Apr 12, 2024 |
| TELO2-related intellectual disability-neurodevelopmental disorder | 1 | Apr 12, 2024 |
| TTN-related myopathy | 10 | Apr 12, 2024 |
| Tangier disease | 1 | Apr 12, 2024 |
| Tay-Sachs disease | 1 | Apr 12, 2024 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 9 | Apr 12, 2024 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 6 | Apr 12, 2024 |
| Testicular anomalies with or without congenital heart disease | 1 | Apr 12, 2024 |
| Testicular atrophy | 1 | Apr 12, 2024 |
| Timothy syndrome | 1 | Apr 12, 2024 |
| Tuberous sclerosis 1 | 1 | Apr 12, 2024 |
| Tuberous sclerosis syndrome | 1 | Apr 12, 2024 |
| Type 2 diabetes mellitus | 1 | Apr 12, 2024 |
| Ullrich congenital muscular dystrophy 1A | 2 | Apr 12, 2024 |
| Undetermined early-onset epileptic encephalopathy | 1 | Apr 12, 2024 |
| Usher syndrome type 2 | 3 | Apr 12, 2024 |
| Usher syndrome type 2A | 1 | Apr 12, 2024 |
| Usher syndrome type 2C | 1 | Apr 12, 2024 |
| VISS syndrome | 1 | Apr 12, 2024 |
| Ventriculomegaly-cystic kidney disease | 1 | Apr 12, 2024 |
| Vertebral, cardiac, renal, and limb defects syndrome 2 | 1 | Apr 12, 2024 |
| Very long chain acyl-CoA dehydrogenase deficiency | 1 | Apr 12, 2024 |
| Waardenburg syndrome type 4C | 1 | Apr 12, 2024 |
| Wilson disease | 3 | Apr 12, 2024 |
| Wolfram syndrome 1 | 1 | Apr 12, 2024 |
| Woodhouse-Sakati syndrome | 2 | Apr 12, 2024 |
| X-linked Alport syndrome | 6 | Apr 12, 2024 |
| X-linked lymphoproliferative disease due to XIAP deficiency | 1 | Apr 12, 2024 |
| X-linked osteoporosis with fractures | 1 | Apr 12, 2024 |
| Xeroderma pigmentosum variant type | 1 | Apr 12, 2024 |
| Xeroderma pigmentosum, group D | 3 | Apr 12, 2024 |
| Zimmermann-Laband syndrome 1 | 1 | Apr 12, 2024 |
