Autosomal dominant disease

Part of

Sub-types of Autosomal dominant disease

• Neurofibromatosis 19 trials · 94 incl. sub-types
  5 sub-types

  • Neurofibromatosis type 1 73 trials Sub-types →
  • NF2-related schwannomatosis 21 trials
  • Schwannomatosis 3 trials Sub-types →
  • Neurofibromatosis-Noonan syndrome 2 trials Sub-types →
  • Neurofibromatosis, type IV, of Riccardi 0 trials
• Lynch syndrome 81 trials · 83 incl. sub-types
  5 sub-types

  • Lynch syndrome 1 5 trials
  • Lynch syndrome 2 3 trials
  • Lynch syndrome 4 0 trials
  • Lynch syndrome 5 0 trials
  • Lynch syndrome 8 0 trials
• Autosomal dominant polycystic kidney disease 59 trials
  7 sub-types

  • Polycystic kidney disease 1 1 trial
  • ALG9-associated autosomal dominant polycystic kidney disease 0 trials
  • Polycystic kidney disease 2 0 trials
  • Polycystic kidney disease 3 with or without polycystic liver disease 0 trials
  • Polycystic kidney disease 6 with or without polycystic liver disease 0 trials
  • Polycystic kidney disease 7 0 trials
  • Polycystic kidney disease 8 0 trials
• Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 53 trials
• Tuberous sclerosis 41 trials · 44 incl. sub-types
  2 sub-types

  • Tuberous sclerosis 1 33 trials
  • Tuberous sclerosis 2 2 trials
• Hereditary breast ovarian cancer syndrome 35 trials · 38 incl. sub-types
  2 sub-types

  • Breast-ovarian cancer, familial, susceptibility to, 1 3 trials
  • Breast-ovarian cancer, familial, susceptibility to, 2 2 trials
• Early-onset autosomal dominant Alzheimer disease 31 trials · 37 incl. sub-types
  14 sub-types

  • Alzheimer disease 3 5 trials
  • Alzheimer disease type 1 4 trials
  • Alzheimer disease 4 3 trials
  • Alzheimer disease 10 1 trial
  • Alzheimer disease 11 1 trial
  • Alzheimer disease 12 1 trial
  • Alzheimer disease 13 1 trial
  • Alzheimer disease 14 1 trial
  • Alzheimer disease 5 1 trial
  • Alzheimer disease 6 1 trial
  • Alzheimer disease 7 1 trial
  • Alzheimer disease 8 1 trial
  • Alzheimer disease without neurofibrillary tangles 1 trial
  • Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology 0 trials
• Hereditary hemorrhagic telangiectasia 34 trials
  5 sub-types

  • Telangiectasia, hereditary hemorrhagic, type 1 4 trials
  • Hereditary hemorrhagic telangiectasia type 3 0 trials
  • Hereditary hemorrhagic telangiectasia type 4 0 trials
  • Telangiectasia, hereditary hemorrhagic, type 2 0 trials
  • Telangiectasia, hereditary hemorrhagic, type 5 0 trials
• Multiple endocrine neoplasia type 1 34 trials
• Autosomal dominant cerebellar ataxia 11 trials · 33 incl. sub-types
  15 sub-types

  • Autosomal dominant cerebellar ataxia type I 0 trials · 16 incl. sub-types Sub-types →
  • Autosomal dominant cerebellar ataxia type III 0 trials · 9 incl. sub-types Sub-types →
  • Autosomal dominant cerebellar ataxia type IV 0 trials · 8 incl. sub-types Sub-types →
  • Spinocerebellar ataxia 7 7 trials
  • Spinocerebellar ataxia 27B, late-onset 4 trials
  • Spinocerebellar ataxia 9 2 trials
  • Spinocerebellar ataxia 27A 1 trial
  • GRID2-related autosomal dominant spinocerebellar ataxia 0 trials
  • Spinocerebellar ataxia 43 0 trials
  • Spinocerebellar ataxia 44 0 trials
  • Spinocerebellar ataxia 47 0 trials
  • Spinocerebellar ataxia 48 0 trials
  • Spinocerebellar ataxia 49 0 trials
  • Spinocerebellar ataxia 50 0 trials
  • Spinocerebellar ataxia 51 0 trials
• Von Hippel-Lindau disease 27 trials
• Intellectual disability, autosomal dominant 0 trials · 23 incl. sub-types
  29 sub-types

  • Autosomal dominant syndromic intellectual disability 0 trials · 15 incl. sub-types Sub-types →
  • Autosomal dominant non-syndromic intellectual disability 0 trials · 8 incl. sub-types Sub-types →
  • Intellectual disability, autosomal dominant 5 2 trials
  • Intellectual developmental disorder, autosomal dominant 64 0 trials
  • Intellectual developmental disorder, autosomal dominant 65 0 trials
  • Intellectual developmental disorder, autosomal dominant 66 0 trials
  • Intellectual developmental disorder, autosomal dominant 67 0 trials
  • Intellectual developmental disorder, autosomal dominant 68 0 trials
  • Intellectual developmental disorder, autosomal dominant 69 0 trials
  • Intellectual developmental disorder, autosomal dominant 70 0 trials
  • Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities 0 trials
  • Intellectual developmental disorder, autosomal dominant 72 0 trials
  • Intellectual developmental disorder, autosomal dominant 74 0 trials
  • Intellectual developmental disorder, autosomal dominant 75 0 trials
  • Intellectual developmental disorder, autosomal dominant 76 0 trials
  • Intellectual disability, autosomal dominant 1 0 trials
  • Intellectual disability, autosomal dominant 10 0 trials
  • Intellectual disability, autosomal dominant 11 0 trials
  • Intellectual disability, autosomal dominant 2 0 trials
  • Intellectual disability, autosomal dominant 24 0 trials
  • Intellectual disability, autosomal dominant 3 0 trials
  • Intellectual disability, autosomal dominant 38 0 trials
  • Intellectual disability, autosomal dominant 39 0 trials
  • Intellectual disability, autosomal dominant 4 0 trials
  • Intellectual disability, autosomal dominant 40 0 trials
  • Intellectual disability, autosomal dominant 42 0 trials
  • Intellectual disability, autosomal dominant 6 0 trials
  • Intellectual disability, autosomal dominant 9 0 trials
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 trials
• Marfan syndrome 21 trials
  1 sub-type

  • Neonatal Marfan syndrome 0 trials
• Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 19 trials
• Li-Fraumeni syndrome 16 trials
• NOTCH1-related AOS spectrum disorder 0 trials · 16 incl. sub-types
  2 sub-types

  • Aortic valve disease 1 16 trials
  • Adams-Oliver syndrome 5 0 trials
• Cowden disease 11 trials
  8 sub-types

  • Cowden syndrome 1 1 trial
  • Cowden syndrome 2 0 trials
  • Cowden syndrome 3 0 trials
  • Cowden syndrome 4 0 trials
  • Cowden syndrome 5 0 trials
  • Cowden syndrome 6 0 trials
  • Cowden syndrome 7 0 trials
  • Sacral hemangiomas multiple congenital abnormalities 0 trials
• Autosomal dominant hypocalcemia 9 trials · 10 incl. sub-types
  2 sub-types

  • Autosomal dominant hypocalcemia 1 4 trials
  • Autosomal dominant hypocalcemia 2 1 trial
• Peutz-Jeghers syndrome 9 trials
• Neurohypophyseal diabetes insipidus 9 trials
• PTEN hamartoma tumor syndrome 6 trials · 8 incl. sub-types
  4 sub-types

  • Proteus syndrome 2 trials
  • Bannayan-Riley-Ruvalcaba syndrome 1 trial
  • Proteus-like syndrome 0 trials
  • Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 0 trials
• Costello syndrome 7 trials
• Autosomal dominant medullary cystic kidney disease with or without hyperuricemia 7 trials
  2 sub-types

  • Familial juvenile hyperuricemic nephropathy type 1 0 trials
  • Tubulointerstitial kidney disease, autosomal dominant, 2 0 trials
• Loeys-Dietz syndrome 6 trials
  6 sub-types

  • Loeys-Dietz syndrome 1 0 trials
  • Loeys-Dietz syndrome 2 0 trials
  • Loeys-Dietz syndrome 4 0 trials
  • Loeys-Dietz syndrome 6 0 trials
  • Rienhoff syndrome 0 trials
  • Aneurysm-osteoarthritis syndrome 0 trials
• Autosomal dominant optic atrophy 6 trials
  6 sub-types

  • Autosomal dominant optic atrophy, classic form 3 trials
  • Al Gazali Khidr Prem Chandran syndrome 0 trials
  • Autosomal dominant optic atrophy and peripheral neuropathy 0 trials
  • Autosomal dominant optic atrophy plus syndrome 0 trials Sub-types →
  • Optic atrophy 3 0 trials
  • Optic atrophy 5 0 trials
• Melanoma, cutaneous malignant, susceptibility to, 2 6 trials
• Nevoid basal cell carcinoma syndrome 5 trials
  2 sub-types

  • Basal cell nevus syndrome 1 0 trials
  • Basal cell nevus syndrome 2 0 trials
• Carney complex 4 trials
  3 sub-types

  • Carney complex - trismus - pseudocamptodactyly syndrome 0 trials
  • Carney complex type 2 0 trials
  • Carney complex, type 1 0 trials
• Crouzon syndrome-acanthosis nigricans syndrome 4 trials
• Multiple endocrine neoplasia type 2A 4 trials
• Piebaldism 4 trials
• Muscular dystrophy, limb-girdle, autosomal dominant 0 trials · 4 incl. sub-types
  8 sub-types

  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant 3 trials
  • Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2 trials
  • Autosomal dominant limb-girdle muscular dystrophy type 1F 1 trial
  • Autosomal dominant limb-girdle muscular dystrophy type 1G 1 trial
  • Autosomal dominant limb-girdle muscular dystrophy type 1H 1 trial
  • Autosomal dominant limb-girdle muscular dystrophy type 1E (DES) 0 trials
  • Muscular dystrophy, limb-girdle, autosomal dominant 4 0 trials
  • Myofibrillar myopathy 3 0 trials
• Muckle-Wells syndrome 3 trials
• Noonan syndrome with multiple lentigines 3 trials
  3 sub-types

  • LEOPARD syndrome 1 0 trials
  • LEOPARD syndrome 2 0 trials
  • LEOPARD syndrome 3 0 trials
• Autosomal dominant polycystic liver disease 3 trials
  5 sub-types

  • SEC61B-related polycystic liver disease 0 trials
  • Polycystic liver disease 1 0 trials
  • Polycystic liver disease 2 0 trials
  • Polycystic liver disease 3 with or without kidney cysts 0 trials
  • Polycystic liver disease 4 with or without kidney cysts 0 trials
• Hyper-IgE recurrent infection syndrome 1, autosomal dominant 3 trials
• Autosomal dominant Emery-Dreifuss muscular dystrophy 0 trials · 3 incl. sub-types
  4 sub-types

  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant 3 trials
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 trials
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 trials
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant 0 trials
• Autosomal dominant intermediate Charcot-Marie-Tooth disease 0 trials · 3 incl. sub-types
  8 sub-types

  • Charcot-Marie-Tooth disease dominant intermediate D 0 trials · 3 incl. sub-types Sub-types →
  • Charcot-Marie-Tooth disease dominant intermediate B 0 trials · 1 incl. sub-types Sub-types →
  • Charcot-Marie-Tooth Disease, axonal, type 2GG 0 trials
  • Charcot-Marie-Tooth disease dominant intermediate C 0 trials
  • Charcot-Marie-Tooth disease dominant intermediate E 0 trials
  • Charcot-Marie-Tooth disease dominant intermediate F 0 trials
  • Charcot-Marie-Tooth disease, dominant intermediate A 0 trials
  • Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain 0 trials
• Birt-Hogg-Dube syndrome 2 trials
  2 sub-types

  • Birt-Hogg-Dube syndrome 1 0 trials
  • Birt-Hogg-Dube syndrome 2 0 trials
• Muir-Torre syndrome 2 trials
• Autosomal dominant vibratory urticaria 2 trials
• Hereditary retinoblastoma 2 trials
• Multiple endocrine neoplasia type 2B 2 trials
• Nail-patella syndrome 2 trials
• Autosomal dominant nonsyndromic hearing loss 1 trial · 2 incl. sub-types
  75 sub-types

  • Autosomal dominant nonsyndromic hearing loss 9 1 trial
  • Autosomal dominant auditory neuropathy 1 0 trials
  • Autosomal dominant nonsyndromic hearing loss 1 0 trials
  • Autosomal dominant nonsyndromic hearing loss 10 0 trials
  • Autosomal dominant nonsyndromic hearing loss 11 0 trials
  • Autosomal dominant nonsyndromic hearing loss 12 0 trials
  • Autosomal dominant nonsyndromic hearing loss 13 0 trials
  • Autosomal dominant nonsyndromic hearing loss 15 0 trials
  • Autosomal dominant nonsyndromic hearing loss 16 0 trials
  • Autosomal dominant nonsyndromic hearing loss 17 0 trials
  • Autosomal dominant nonsyndromic hearing loss 18 0 trials
  • Autosomal dominant nonsyndromic hearing loss 20 0 trials
  • Autosomal dominant nonsyndromic hearing loss 21 0 trials
  • Autosomal dominant nonsyndromic hearing loss 22 0 trials
  • Autosomal dominant nonsyndromic hearing loss 23 0 trials
  • Autosomal dominant nonsyndromic hearing loss 24 0 trials
  • Autosomal dominant nonsyndromic hearing loss 25 0 trials
  • Autosomal dominant nonsyndromic hearing loss 27 0 trials
  • Autosomal dominant nonsyndromic hearing loss 28 0 trials
  • Autosomal dominant nonsyndromic hearing loss 2A 0 trials
  • Autosomal dominant nonsyndromic hearing loss 2B 0 trials
  • Autosomal dominant nonsyndromic hearing loss 30 0 trials
  • Autosomal dominant nonsyndromic hearing loss 31 0 trials
  • Autosomal dominant nonsyndromic hearing loss 33 0 trials
  • Autosomal dominant nonsyndromic hearing loss 36 0 trials
  • Autosomal dominant nonsyndromic hearing loss 3A 0 trials
  • Autosomal dominant nonsyndromic hearing loss 3B 0 trials
  • Autosomal dominant nonsyndromic hearing loss 40 0 trials
  • Autosomal dominant nonsyndromic hearing loss 41 0 trials
  • Autosomal dominant nonsyndromic hearing loss 43 0 trials
  • Autosomal dominant nonsyndromic hearing loss 44 0 trials
  • Autosomal dominant nonsyndromic hearing loss 47 0 trials
  • Autosomal dominant nonsyndromic hearing loss 48 0 trials
  • Autosomal dominant nonsyndromic hearing loss 49 0 trials
  • Autosomal dominant nonsyndromic hearing loss 4A 0 trials
  • Autosomal dominant nonsyndromic hearing loss 4B 0 trials
  • Autosomal dominant nonsyndromic hearing loss 5 0 trials
  • Autosomal dominant nonsyndromic hearing loss 50 0 trials
  • Autosomal dominant nonsyndromic hearing loss 51 0 trials
  • Autosomal dominant nonsyndromic hearing loss 53 0 trials
  • Autosomal dominant nonsyndromic hearing loss 54 0 trials
  • Autosomal dominant nonsyndromic hearing loss 56 0 trials
  • Autosomal dominant nonsyndromic hearing loss 58 0 trials
  • Autosomal dominant nonsyndromic hearing loss 59 0 trials
  • Autosomal dominant nonsyndromic hearing loss 6 0 trials
  • Autosomal dominant nonsyndromic hearing loss 64 0 trials
  • Autosomal dominant nonsyndromic hearing loss 65 0 trials
  • Autosomal dominant nonsyndromic hearing loss 66 0 trials
  • Autosomal dominant nonsyndromic hearing loss 67 0 trials
  • Autosomal dominant nonsyndromic hearing loss 68 0 trials
  • Autosomal dominant nonsyndromic hearing loss 69 0 trials
  • Autosomal dominant nonsyndromic hearing loss 7 0 trials
  • Autosomal dominant nonsyndromic hearing loss 70 0 trials
  • Hearing loss, autosomal dominant 34, with or without inflammation 0 trials
  • Hearing loss, autosomal dominant 37 0 trials
  • Hearing loss, autosomal dominant 71 0 trials
  • Hearing loss, autosomal dominant 72 0 trials
  • Hearing loss, autosomal dominant 73 0 trials
  • Hearing loss, autosomal dominant 74 0 trials
  • Hearing loss, autosomal dominant 75 0 trials
  • Hearing loss, autosomal dominant 76 0 trials
  • Hearing loss, autosomal dominant 77 0 trials
  • Hearing loss, autosomal dominant 78 0 trials
  • Hearing loss, autosomal dominant 79 0 trials
  • Hearing loss, autosomal dominant 80 0 trials
  • Hearing loss, autosomal dominant 81 0 trials
  • Hearing loss, autosomal dominant 82 0 trials
  • Hearing loss, autosomal dominant 83 0 trials
  • Hearing loss, autosomal dominant 84 0 trials
  • Hearing loss, autosomal dominant 85 0 trials
  • Hearing loss, autosomal dominant 86 0 trials
  • Hearing loss, autosomal dominant 87 0 trials
  • Hearing loss, autosomal dominant 88 0 trials
  • Hearing loss, autosomal dominant 89 0 trials
  • Hearing loss, autosomal dominant 90 0 trials
• Autosomal dominant progressive external ophthalmoplegia 1 trial · 2 incl. sub-types
  5 sub-types

  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 1 trial
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 0 trials
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 0 trials
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 0 trials
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 0 trials
• Brooke-Spiegler syndrome 0 trials · 2 incl. sub-types
  2 sub-types

  • Familial cylindromatosis 2 trials
  • Familial multiple trichoepithelioma 0 trials Sub-types →
• Denys-Drash syndrome 1 trial
• Duane-radial ray syndrome 1 trial
  2 sub-types

  • Okihiro syndrome due to 20q13 microdeletion 0 trials
  • Okihiro syndrome due to a point mutation 0 trials
• EEC syndrome 1 trial
  2 sub-types

  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 0 trials
  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 0 trials
• Timothy syndrome 1 trial
  2 sub-types

  • Timothy syndrome, classic type 0 trials · 1 incl. sub-types Sub-types →
  • Timothy syndrome, atypical type 0 trials
• Waardenburg syndrome 1 trial
  5 sub-types

  • Waardenburg syndrome type 1 1 trial
  • Waardenburg syndrome type 2 1 trial Sub-types →
  • Waardenburg syndrome type 3 0 trials
  • Waardenburg syndrome, IIa 2F 0 trials
  • Waardenburg-Shah syndrome 0 trials Sub-types →
• Brain small vessel disease 2A, autosomal dominant 1 trial
• Cherubism 1 trial
  1 sub-type

  • Al Gazali Khidr Prem Chandran syndrome 0 trials
• Colorectal cancer, hereditary nonpolyposis, type 6 1 trial
• Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 1 trial
• Gastric adenocarcinoma and proximal polyposis of the stomach 1 trial
• Macrocephaly-autism syndrome 1 trial
• Microcephalic osteodysplastic dysplasia, Saul-Wilson type 1 trial
• Multiple cutaneous and mucosal venous malformations 1 trial
• Proximal symphalangism 1 trial
  2 sub-types

  • Proximal symphalangism 1A 0 trials
  • Symphalangism, proximal, 1B 0 trials
• Trichorhinophalangeal syndrome type II 1 trial
• ADULT syndrome 0 trials
• ALG8-related autosomal dominant polycystic kidney and/or liver disease 0 trials
• ALPL-related autosomal dominant hypophosphatasia 0 trials
  1 sub-type

  • Mild hypophosphatasia 0 trials
• Alagille syndrome due to a JAG1 point mutation 0 trials
• BMPR1A-related juvenile polyposis syndrome 0 trials
• Beare-Stevenson cutis gyrata syndrome 0 trials
• Birk-Barel syndrome 0 trials
• Charcot-Marie-Tooth disease, demyelinating, type 1G 0 trials
• Charcot-Marie-tooth disease, axonal, type 2DD 0 trials
• Coffin-Siris syndrome 1 0 trials
• Delpire-McNeill syndrome 0 trials
• Ehlers-Danlos syndrome, classic type 0 trials
  2 sub-types

  • Ehlers-Danlos syndrome, classic type, 1 0 trials
  • Ehlers-Danlos syndrome, classic type, 2 0 trials
• FLNB-associated autosomal dominant filamin related bone disorder 0 trials
  4 sub-types

  • Boomerang dysplasia 0 trials
  • Larsen syndrome 0 trials
  • Atelosteogenesis type I 0 trials
  • Atelosteogenesis type III 0 trials
• Feingold syndrome 0 trials
  2 sub-types

  • Feingold syndrome type 1 0 trials
  • Feingold syndrome type 2 0 trials
• Flynn-Aird syndrome 0 trials
• Frasier syndrome 0 trials
• GUCY2D-related dominant retinopathy 0 trials
  1 sub-type

  • Choroidal dystrophy, central areolar, 1 0 trials
• Holt-Oram syndrome 0 trials
  1 sub-type

  • Heart-hand syndrome type 3 0 trials
• Houge-Janssens syndrome 2 0 trials
• IMPG1-related dominant retinopathy 0 trials
  1 sub-type

  • Benign concentric annular macular dystrophy 0 trials
• KINSSHIP syndrome 0 trials
• LADD syndrome 0 trials
  3 sub-types

  • LADD syndrome 1 0 trials
  • Lacrimoauriculodentodigital syndrome 2 0 trials
  • Lacrimoauriculodentodigital syndrome 3 0 trials
• LAMA5-related multisystemic syndrome 0 trials
• MAX-related tumor predisposition 0 trials
• MYH10-related neurodevelopmental disorder with congenital anomalies 0 trials
• NOG-related symphalangism spectrum disorder 0 trials
  5 sub-types

  • Brachydactyly type B2 0 trials
  • Multiple synostoses syndrome 1 0 trials
  • Proximal symphalangism 1A 0 trials
  • Stapes ankylosis with broad thumbs and toes 0 trials
  • Tarsal-carpal coalition syndrome 0 trials
• PCWH syndrome 0 trials
• PROM1-related dominant retinopathy 0 trials
  2 sub-types

  • Stargardt disease 4 0 trials
  • Retinal macular dystrophy type 2 0 trials
• PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 trials
  2 sub-types

  • PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation 0 trials
  • Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion 0 trials
• Pelger-Huet anomaly 0 trials
• Pilarowski-Bjornsson syndrome 0 trials
• RP1-related dominant retinopathy 0 trials
• RPE65-related dominant retinopathy 0 trials
  1 sub-type

  • Retinitis pigmentosa 87 with choroidal involvement 0 trials
• Rapp-Hodgkin syndrome 0 trials
• TMEM127-related tumor predisposition 0 trials
• Townes-Brocks syndrome 0 trials
  2 sub-types

  • Townes-Brocks syndrome 1 0 trials
  • Townes-Brocks syndrome 2 0 trials
• Treacher-Collins syndrome 0 trials
  4 sub-types

  • Treacher Collins syndrome 1 0 trials
  • Treacher Collins syndrome 2 0 trials
  • Treacher Collins syndrome 3 0 trials
  • Treacher Collins syndrome 4 0 trials
• Acroosteolysis dominant type 0 trials
• Amelogenesis imperfecta type 1B 0 trials
• Arthrogryposis, distal, type 2B2 0 trials
• Arthrogryposis, distal, type 2B3 0 trials
• Autosomal dominant Aarskog syndrome 0 trials
• Autosomal dominant Alport syndrome 0 trials
• Autosomal dominant Ehlers-Danlos syndrome, vascular type 0 trials
• Autosomal dominant Kenny-Caffey syndrome 0 trials
• Autosomal dominant Robinow syndrome 0 trials
  3 sub-types

  • Autosomal dominant Robinow syndrome 1 0 trials
  • Autosomal dominant Robinow syndrome 2 0 trials
  • Autosomal dominant Robinow syndrome 3 0 trials
• Autosomal dominant brachyolmia 0 trials
• Autosomal dominant cataract 0 trials
  1 sub-type

  • Autosomal dominant non-nuclear cataract 0 trials
• Autosomal dominant centronuclear myopathy 0 trials
• Autosomal dominant chondrodysplasia punctata 0 trials
  2 sub-types

  • Chondrodysplasia punctata, brachytelephalangic, autosomal 0 trials
  • Chondrodysplasia punctata, tibial-metacarpal type 0 trials
• Autosomal dominant coarctation of aorta 0 trials
• Autosomal dominant complex spastic paraplegia 0 trials
  13 sub-types

  • Autosomal dominant spastic paraplegia type 9 0 trials Sub-types →
  • Hereditary spastic paraplegia 17 0 trials
  • Hereditary spastic paraplegia 29 0 trials
  • Hereditary spastic paraplegia 36 0 trials
  • Hereditary spastic paraplegia 38 0 trials
  • Spastic paraplegia 18a, autosomal dominant 0 trials
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity 0 trials
  • Spastic paraplegia-Paget disease of bone syndrome 0 trials
  • Spastic paraplegia-epilepsy-intellectual disability syndrome 0 trials
  • Spastic paraplegia-facial-cutaneous lesions syndrome 0 trials
  • Spastic paraplegia-nephritis-deafness syndrome 0 trials
  • Spastic paraplegia-neuropathy-poikiloderma syndrome 0 trials
  • Spastic paraplegia-precocious puberty syndrome 0 trials
• Autosomal dominant cutis laxa 0 trials
  3 sub-types

  • Cutis laxa, autosomal dominant 1 0 trials
  • Cutis laxa, autosomal dominant 2 0 trials
  • Cutis laxa, autosomal dominant 3 0 trials
• Autosomal dominant distal myopathy 0 trials
  15 sub-types

  • Finnish upper limb-onset distal myopathy 0 trials
  • KLHL9-related early-onset distal myopathy 0 trials
  • TARDBP-related predominantly upper-limb distal myopathy 0 trials
  • Adult-onset distal myopathy due to VCP mutation 0 trials
  • Asymetric thumb-handgrip weakness-distal myopathy 0 trials
  • Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy 0 trials
  • Distal myopathy with posterior leg and anterior hand involvement 0 trials
  • Distal myopathy with vocal cord weakness 0 trials
  • Distal myopathy, Tateyama type 0 trials
  • Distal myopathy, Welander type 0 trials
  • Myofibrillar myopathy 2 0 trials
  • Myofibrillar myopathy 3 0 trials
  • Myofibrillar myopathy 4 0 trials
  • Myopathy, myofibrillar, 9, with early respiratory failure 0 trials
  • Tibial muscular dystrophy 0 trials
• Autosomal dominant distal renal tubular acidosis 0 trials
• Autosomal dominant epidermolytic ichthyosis 0 trials
  2 sub-types

  • Annular epidermolytic ichthyosis 0 trials Sub-types →
  • Epidermolytic hyperkeratosis 2A, autosomal dominant 0 trials
• Autosomal dominant hypohidrotic ectodermal dysplasia 0 trials
  2 sub-types

  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 0 trials
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant 0 trials
• Autosomal dominant hypophosphatemic rickets 0 trials
• Autosomal dominant ichthyosis vulgaris 0 trials
  2 sub-types

  • Mild ichthyosis vulgaris 0 trials
  • Severe ichthyosis vulgaris 0 trials
• Autosomal dominant keratitis 0 trials
• Autosomal dominant keratitis-ichthyosis-hearing loss syndrome 0 trials
• Autosomal dominant myoglobinuria 0 trials
• Autosomal dominant nebulin-related myopathy 0 trials
• Autosomal dominant oculocutaneous albinism 0 trials
• Autosomal dominant omodysplasia 0 trials
• Autosomal dominant osteopetrosis 0 trials
  4 sub-types

  • Autosomal dominant osteopetrosis 1 0 trials
  • Autosomal dominant osteopetrosis 2 0 trials
  • Osteopetrosis, autosomal dominant 3 0 trials
  • Osteopetrosis, autosomal dominant 4 0 trials
• Autosomal dominant popliteal pterygium syndrome 0 trials
• Autosomal dominant primary microcephaly 0 trials
  3 sub-types

  • Microcephaly 18, primary, autosomal dominant 0 trials
  • Microcephaly 26, primary, autosomal dominant 0 trials
  • Microcephaly 27, primary, autosomal dominant 0 trials
• Autosomal dominant proximal renal tubular acidosis 0 trials
• Autosomal dominant rhegmatogenous retinal detachment 0 trials
• Autosomal dominant severe congenital neutropenia 0 trials
  3 sub-types

  • Neutropenia, lethal congenital, with eosinophilia 0 trials
  • Neutropenia, severe congenital, 1, autosomal dominant 0 trials
  • Neutropenia, severe congenital, 2, autosomal dominant 0 trials
• Autosomal dominant sideroblastic anemia 0 trials
• Autosomal dominant spastic ataxia 0 trials
  3 sub-types

  • Spastic ataxia 1 0 trials
  • Spastic ataxia 11, autosomal dominant 0 trials
  • Spastic ataxia 7 0 trials
• Autosomal dominant spondylocostal dysostosis 0 trials
• Autosomal dominant titinopathy 0 trials
  4 sub-types

  • Dilated cardiomyopathy 1G 0 trials
  • Hypertrophic cardiomyopathy 9 0 trials
  • Myopathy, myofibrillar, 9, with early respiratory failure 0 trials
  • Tibial muscular dystrophy 0 trials
• Blepharocheilodontic syndrome 0 trials
  3 sub-types

  • Martinez Monasterio Pinheiro syndrome 0 trials
  • Blepharocheilodontic syndrome 1 0 trials
  • Blepharocheilodontic syndrome 2 0 trials
• Blepharophimosis, ptosis, and epicanthus inversus syndrome 0 trials
  5 sub-types

  • Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome 0 trials
  • Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome 0 trials
  • Blepharophimosis-epicanthus inversus-ptosis due to copy number variations 0 trials
  • Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 0 trials
  • Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 0 trials
• Branchio-oto-renal syndrome 0 trials
  2 sub-types

  • Branchiootorenal syndrome 1 0 trials
  • Branchiootorenal syndrome 2 0 trials
• Branchiooculofacial syndrome 0 trials
• Calcaneonavicular coalition 0 trials
• Cataract-aberrant oral frenula-growth delay syndrome 0 trials
• Cochleosaccular degeneration-cataract syndrome 0 trials
• Colorectal cancer, hereditary nonpolyposis, type 7 0 trials
• Congenital stationary night blindness autosomal dominant 3 0 trials
• Diffuse nonepidermolytic palmoplantar keratoderma 0 trials
• Distal arthrogryposis type 2B1 0 trials
• Dyskeratosis congenita, autosomal dominant 2 0 trials
• Dyskeratosis congenita, autosomal dominant 3 0 trials
• Dyskeratosis congenita, autosomal dominant 6 0 trials
• Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss 0 trials
• Familial antiphospholipid syndrome 0 trials
• Fatty acyl-CoA reductase 1 upregulation 0 trials
• Generalized juvenile polyposis/juvenile polyposis coli 0 trials
• Hand-foot-genital syndrome 0 trials
• Heart-hand syndrome, Slovenian type 0 trials
• Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome 0 trials
• Hyperkeratosis-hyperpigmentation syndrome 0 trials
• Hypopigmentation-punctate palmoplantar keratoderma syndrome 0 trials
• Inclusion body myopathy and brain white matter abnormalities 0 trials
• Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 0 trials
• Intellectual disability, autosomal dominant 14 0 trials
• Intellectual disability, autosomal dominant 15 0 trials
• Intellectual disability, autosomal dominant 16 0 trials
• Intellectual disability, autosomal dominant 29 0 trials
• Intellectual disability, autosomal dominant 30 0 trials
• Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 trials
• Isolated congenital adermatoglyphia 0 trials
• Juvenile cataract-microcornea-renal glucosuria syndrome 0 trials
• Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 0 trials
• Mandibulofacial dysostosis-microcephaly syndrome 0 trials
• Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 trials
• Monilethrix 0 trials
  3 sub-types

  • Monilethrix-1 0 trials
  • Monilethrix-2 0 trials
  • Monilethrix-3 0 trials
• Multiple endocrine neoplasia type 4 0 trials
• Neuronopathy, distal hereditary motor, autosomal dominant 0 trials
  11 sub-types

  • Distal hereditary motor neuropathy type 2 0 trials Sub-types →
  • Distal hereditary motor neuropathy type 7 0 trials Sub-types →
  • Hereditary spastic paraplegia 17 0 trials
  • Myopathy, myofibrillar, 13, with rimmed vacuoles 0 trials
  • Neuronopathy, distal hereditary motor, autosomal dominant 1 0 trials
  • Neuronopathy, distal hereditary motor, autosomal dominant 10 0 trials
  • Neuronopathy, distal hereditary motor, autosomal dominant 11 0 trials
  • Neuronopathy, distal hereditary motor, autosomal dominant 15 0 trials
  • Neuronopathy, distal hereditary motor, autosomal dominant 8 0 trials
  • Neuronopathy, distal hereditary motor, type 5 0 trials Sub-types →
  • Neuronopathy, distal hereditary motor, type 9 0 trials
• Palmoplantar keratoderma-spastic paralysis syndrome 0 trials
• Pheochromocytoma/paraganglioma syndrome 1 0 trials
• Pheochromocytoma/paraganglioma syndrome 2 0 trials
• Pheochromocytoma/paraganglioma syndrome 3 0 trials
• Pheochromocytoma/paraganglioma syndrome 4 0 trials
• Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 trials
• Renal coloboma syndrome 0 trials
• Retinoschisis, autosomal dominant 0 trials
• Scapuloperoneal spinal muscular atrophy, autosomal dominant 0 trials
• Severe achondroplasia-developmental delay-acanthosis nigricans syndrome 0 trials
• Spastic paraplegia 30A, autosomal dominant 0 trials
• Spondyloepimetaphyseal dysplasia with multiple dislocations 0 trials
• Spondyloepiphyseal dysplasia tarda, autosomal dominant 0 trials
• Thanatophoric dysplasia type 1 0 trials
• Thrombophilia due to protein S deficiency, autosomal dominant 0 trials
• Trichorhinophalangeal syndrome type I 0 trials