Autosomal genetic disease

Part of

Sub-types of Autosomal genetic disease

• Autosomal recessive disease 4 trials · 994 incl. sub-types
  219 sub-types

  • Sickle cell disease 342 trials Sub-types →
  • Cystic fibrosis 283 trials Sub-types →
  • Autosomal recessive cerebellar ataxia 0 trials · 72 incl. sub-types Sub-types →
  • Phenylketonuria 57 trials · 60 incl. sub-types Sub-types →
  • Mismatch repair cancer syndrome 5 trials · 36 incl. sub-types Sub-types →
  • Autosomal recessive limb-girdle muscular dystrophy 0 trials · 18 incl. sub-types Sub-types →
  • Hearing loss, autosomal recessive 1 trial · 17 incl. sub-types Sub-types →
  • Usher syndrome 14 trials · 16 incl. sub-types Sub-types →
  • Netherton syndrome 15 trials
  • Niemann-Pick disease type C 12 trials · 13 incl. sub-types Sub-types →
  • Aicardi-Goutieres syndrome 9 trials Sub-types →
  • Autosomal recessive primary microcephaly 0 trials · 8 incl. sub-types Sub-types →
  • Peroxisome biogenesis disorder 4 trials · 8 incl. sub-types Sub-types →
  • Bardet-Biedl syndrome 6 trials · 7 incl. sub-types Sub-types →
  • RPE65-related recessive retinopathy 5 trials · 7 incl. sub-types Sub-types →
  • Autosomal recessive inherited pseudoxanthoma elasticum 7 trials
  • Hyperphenylalaninemia due to tetrahydrobiopterin deficiency 6 trials · 7 incl. sub-types Sub-types →
  • Leukocyte adhesion deficiency 3 trials · 7 incl. sub-types Sub-types →
  • Cockayne syndrome 6 trials Sub-types →
  • Autosomal recessive hypophosphatemic rickets 5 trials · 6 incl. sub-types Sub-types →
  • Autosomal recessive polycystic kidney disease 6 trials Sub-types →
  • Thiamine-responsive megaloblastic anemia syndrome 6 trials
  • Papillon-Lefevre disease 5 trials
  • Shwachman-Diamond syndrome 5 trials Sub-types →
  • Niemann-Pick disease type A 4 trials
  • Autosomal recessive Kenny-Caffey syndrome 4 trials
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 4 trials
  • Nephronophthisis 4 trials Sub-types →
  • Nephropathic cystinosis 4 trials Sub-types →
  • Neuronopathy, distal hereditary motor, autosomal recessive 0 trials · 4 incl. sub-types Sub-types →
  • Hutchinson-Gilford progeria syndrome 3 trials
  • Sjogren-Larsson syndrome 3 trials
  • Autosomal recessive severe congenital neutropenia 0 trials · 3 incl. sub-types Sub-types →
  • Triple-A syndrome 3 trials
  • Senior-Loken syndrome 1 trial · 2 incl. sub-types Sub-types →
  • Werner syndrome 2 trials
  • Autosomal recessive Alport syndrome 2 trials
  • Autosomal recessive intermediate Charcot-Marie-Tooth disease 0 trials · 2 incl. sub-types Sub-types →
  • Autosomal recessive osteopetrosis 0 trials · 2 incl. sub-types Sub-types →
  • Autosomal recessive sideroblastic anemia 2 trials Sub-types →
  • Autosomal recessive titinopathy 0 trials · 2 incl. sub-types Sub-types →
  • Craniosynostosis syndrome, autosomal recessive 0 trials · 2 incl. sub-types Sub-types →
  • Homocystinuria without methylmalonic aciduria 0 trials · 2 incl. sub-types Sub-types →
  • Hypercalcemia, infantile 2 trials Sub-types →
  • Leukoencephalopathy with calcifications and cysts 2 trials
  • Odonto-onycho-dermal dysplasia 2 trials
  • Proteosome-associated autoinflammatory syndrome 2 trials Sub-types →
  • Alstrom syndrome 1 trial
  • COFS syndrome 1 trial Sub-types →
  • Ellis-van Creveld syndrome 1 trial Sub-types →
  • GUCY2D-related recessive retinopathy 0 trials · 1 incl. sub-types Sub-types →
  • HELIX syndrome 1 trial
  • Meier-Gorlin syndrome 1 trial Sub-types →
  • Niemann-Pick disease type B 1 trial
  • Nijmegen breakage syndrome 1 trial
  • Seckel syndrome 0 trials · 1 incl. sub-types Sub-types →
  • TH-deficient dopa-responsive dystonia 1 trial
  • Autosomal recessive cutis laxa type 1 1 trial Sub-types →
  • Autosomal recessive ocular albinism 0 trials · 1 incl. sub-types Sub-types →
  • Autosomal recessive spastic ataxia 0 trials · 1 incl. sub-types Sub-types →
  • Beta-ketothiolase deficiency 1 trial
  • Cartilage-hair hypoplasia 1 trial Sub-types →
  • Congenital non-bullous ichthyosiform erythroderma 0 trials · 1 incl. sub-types Sub-types →
  • Familial adenomatous polyposis 2 1 trial
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 1 trial
  • Human HOXA1 syndromes 1 trial Sub-types →
  • Hydrocephalus, nonsyndromic, autosomal recessive 1 1 trial
  • Hydrolethalus syndrome 0 trials · 1 incl. sub-types Sub-types →
  • Hyper-IgM syndrome type 2 1 trial
  • Immunodeficiency 31B 1 trial
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 1 trial Sub-types →
  • Intellectual disability, autosomal recessive 0 trials · 1 incl. sub-types Sub-types →
  • Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 1 trial
  • 3-M syndrome 0 trials Sub-types →
  • ABCD syndrome 0 trials
  • ALPL-related autosomal recessive hypophosphatasia 0 trials Sub-types →
  • Behr syndrome 0 trials
  • Bjornstad syndrome 0 trials
  • Bloom syndrome 0 trials
  • Bowen-Conradi syndrome 0 trials
  • CEP164-related ciliopathy 0 trials Sub-types →
  • CoQ-responsive OXPHOS deficiency 0 trials
  • Donnai-Barrow syndrome 0 trials
  • Donohue syndrome 0 trials
  • Duane anomaly-myopathy-scoliosis syndrome 0 trials
  • Ehlers-Danlos syndrome, classic-like, 2 0 trials
  • Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 trials
  • Fraser syndrome 0 trials Sub-types →
  • GM3 synthase deficiency 0 trials
  • Galloway-Mowat syndrome 0 trials Sub-types →
  • Haim-Munk syndrome 0 trials
  • IMPG1-related recessive retinopathy 0 trials Sub-types →
  • Imerslund-Grasbeck syndrome type 1 0 trials
  • Imerslund-Grasbeck syndrome type 2 0 trials
  • Johanson-Blizzard syndrome 0 trials
  • Kahrizi syndrome 0 trials
  • Kilquist syndrome 0 trials
  • Laron syndrome 0 trials
  • Laurence-Moon syndrome 0 trials
  • NAD(P)HX dehydratase deficiency 0 trials
  • Naxos disease 0 trials
  • Nestor-Guillermo progeria syndrome 0 trials
  • Ochoa syndrome 0 trials Sub-types →
  • PHARC syndrome 0 trials
  • PROM1-related recessive retinopathy 0 trials Sub-types →
  • Pendred syndrome 0 trials
  • Perrault syndrome 0 trials Sub-types →
  • Pierson syndrome 0 trials
  • RP1-related recessive retinopathy 0 trials
  • Rajab interstitial lung disease with brain calcifications 1 0 trials
  • Roberts-SC phocomelia syndrome 0 trials
  • SCN4A-related myopathy, autosomal recessive 0 trials Sub-types →
  • Schwartz-Jampel syndrome 0 trials Sub-types →
  • Schöpf-Schulz-Passarge syndrome 0 trials
  • UV-sensitive syndrome 0 trials Sub-types →
  • Uner Tan Syndrome 0 trials
  • Vici syndrome 0 trials
  • Warburg micro syndrome 0 trials Sub-types →
  • Wolcott-Rallison syndrome 0 trials
  • Achalasia microcephaly syndrome 0 trials
  • Acromesomelic dysplasia 2B 0 trials
  • Acrorenal syndrome, autosomal recessive 0 trials
  • Alacrima, achalasia, and intellectual disability syndrome 0 trials
  • Auditory neuropathy-optic atrophy syndrome 0 trials
  • Autosomal recessive Ehlers-Danlos syndrome, vascular type 0 trials
  • Autosomal recessive Robinow syndrome 0 trials
  • Autosomal recessive amelia 0 trials
  • Autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect 0 trials
  • Autosomal recessive brachyolmia 0 trials Sub-types →
  • Autosomal recessive cerebral atrophy 0 trials
  • Autosomal recessive cutis laxa type 2 0 trials Sub-types →
  • Autosomal recessive distal renal tubular acidosis 0 trials Sub-types →
  • Autosomal recessive epidermolytic ichthyosis 0 trials Sub-types →
  • Autosomal recessive extra-oral halitosis 0 trials
  • Autosomal recessive faciodigitogenital syndrome 0 trials
  • Autosomal recessive familial Mediterranean fever 0 trials
  • Autosomal recessive humeroradial synostosis 0 trials
  • Autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius 0 trials
  • Autosomal recessive hypohidrotic ectodermal dysplasia 0 trials Sub-types →
  • Autosomal recessive multiple pterygium syndrome 0 trials Sub-types →
  • Autosomal recessive omodysplasia 0 trials
  • Autosomal recessive palmoplantar keratoderma and congenital alopecia 0 trials
  • Autosomal recessive progressive external ophthalmoplegia 0 trials Sub-types →
  • Autosomal recessive proximal renal tubular acidosis 0 trials
  • Autosomal recessive spastic paraplegia type 78 0 trials
  • Autosomal recessive spondylocostal dysostosis 0 trials Sub-types →
  • Bifid nose, autosomal recessive 0 trials Sub-types →
  • Brain small vessel disease 2B, autosomal recessive 0 trials
  • Branched-chain keto acid dehydrogenase kinase deficiency 0 trials
  • Brittle cornea syndrome 0 trials Sub-types →
  • Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia 0 trials
  • Cardiomyopathy-hypotonia-lactic acidosis syndrome 0 trials
  • Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 0 trials
  • Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 0 trials
  • Cleft lip/palate-ectodermal dysplasia syndrome 0 trials
  • Combined oxidative phosphorylation deficiency 29 0 trials
  • Congenital myopathy with reduced type 2 muscle fibers 0 trials
  • Congenital prothrombin deficiency 0 trials
  • Congenital stationary night blindness 1G 0 trials
  • Congenital vertebral-cardiac-renal anomalies syndrome 0 trials Sub-types →
  • Craniometaphyseal dysplasia, autosomal recessive 0 trials
  • Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 0 trials
  • Dacryocystitis-osteopoikilosis syndrome 0 trials
  • De Barsy syndrome 0 trials Sub-types →
  • Dyskeratosis congenita, autosomal recessive 2 0 trials
  • Dyskeratosis congenita, autosomal recessive 3 0 trials
  • Dyskeratosis congenita, autosomal recessive 5 0 trials
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 0 trials
  • Eosinophil peroxidase deficiency 0 trials
  • Glycosylphosphatidylinositol biosynthesis defect 15 0 trials
  • Gnb5-related intellectual disability-cardiac arrhythmia syndrome 0 trials
  • Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 0 trials
  • Hair defect with photosensitivity and intellectual disability syndrome 0 trials
  • Heart defects-limb shortening syndrome 0 trials
  • Hyperlipoproteinemia, type 1D 0 trials
  • Hypermanganesemia with dystonia 2 0 trials
  • Hyperphenylalaninemia due to DNAJC12 deficiency 0 trials
  • Hypertelorism, microtia, facial clefting syndrome 0 trials
  • Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 0 trials
  • Hypoparathyroidism-retardation-dysmorphism syndrome 0 trials
  • Ichthyosis linearis circumflexa 0 trials
  • Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome 0 trials
  • Inherited threoninemia 0 trials
  • Isolated hyperchlorhidrosis 0 trials
  • Joint laxity, short stature, and myopia 0 trials
  • Leukoencephalopathy-palmoplantar keratoderma syndrome 0 trials
  • Lipase deficiency, combined 0 trials
  • Microcephaly and chorioretinopathy 2 0 trials
  • Microcephaly, growth restriction, and increased sister chromatid exchange 2 0 trials
  • Microphthalmia with limb anomalies 0 trials
  • Mitochondrial complex 2 deficiency, nuclear type 3 0 trials
  • Mitochondrial complex 2 deficiency, nuclear type 4 0 trials
  • Mitochondrial pyruvate carrier deficiency 0 trials
  • Mulibrey nanism 0 trials
  • Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 0 trials
  • Myotonia congenita, autosomal recessive 0 trials
  • Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 0 trials
  • Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 0 trials
  • Oculodentodigital dysplasia, autosomal recessive 0 trials
  • Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 0 trials
  • Osteoporosis-pseudoglioma syndrome 0 trials
  • Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome 0 trials
  • Permanent neonatal diabetes mellitus 1 0 trials
  • Persistent hyperplastic primary vitreous, autosomal recessive 0 trials
  • Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome 0 trials
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly 0 trials Sub-types →
  • Pseudo-TORCH syndrome 0 trials Sub-types →
  • Pseudohypoaldosteronism, type IB2, autosomal recessive 0 trials
  • Pseudohypoaldosteronism, type IB3, autosomal recessive 0 trials
  • Rapadilino syndrome 0 trials
  • Scapuloperoneal spinal muscular atrophy, autosomal recessive 0 trials
  • Severe combined immunodeficiency due to CARMIL2 deficiency 0 trials
  • Short-rib thoracic dysplasia 9 with or without polydactyly 0 trials
  • Skin fragility-woolly hair-palmoplantar keratoderma syndrome 0 trials
  • Spastic paraplegia 18b, autosomal recessive 0 trials
  • Spastic paraplegia 30B, autosomal recessive 0 trials
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 3 0 trials
  • Spondyloepiphyseal dysplasia tarda, autosomal recessive 0 trials
  • Temtamy preaxial brachydactyly syndrome 0 trials
• Autosomal dominant disease 0 trials · 699 incl. sub-types
  192 sub-types

  • Neurofibromatosis 19 trials · 94 incl. sub-types Sub-types →
  • Lynch syndrome 81 trials · 83 incl. sub-types Sub-types →
  • Autosomal dominant polycystic kidney disease 59 trials Sub-types →
  • Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 53 trials
  • Tuberous sclerosis 41 trials · 44 incl. sub-types Sub-types →
  • Hereditary breast ovarian cancer syndrome 35 trials · 38 incl. sub-types Sub-types →
  • Early-onset autosomal dominant Alzheimer disease 31 trials · 37 incl. sub-types Sub-types →
  • Hereditary hemorrhagic telangiectasia 34 trials Sub-types →
  • Multiple endocrine neoplasia type 1 34 trials
  • Autosomal dominant cerebellar ataxia 11 trials · 33 incl. sub-types Sub-types →
  • Von Hippel-Lindau disease 27 trials
  • Intellectual disability, autosomal dominant 0 trials · 23 incl. sub-types Sub-types →
  • Marfan syndrome 21 trials Sub-types →
  • 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 Sub-types →
  • Cowden disease 11 trials Sub-types →
  • Autosomal dominant hypocalcemia 9 trials · 10 incl. sub-types Sub-types →
  • Peutz-Jeghers syndrome 9 trials
  • Neurohypophyseal diabetes insipidus 9 trials
  • PTEN hamartoma tumor syndrome 6 trials · 8 incl. sub-types Sub-types →
  • Costello syndrome 7 trials
  • Autosomal dominant medullary cystic kidney disease with or without hyperuricemia 7 trials Sub-types →
  • Loeys-Dietz syndrome 6 trials Sub-types →
  • Autosomal dominant optic atrophy 6 trials Sub-types →
  • Melanoma, cutaneous malignant, susceptibility to, 2 6 trials
  • Nevoid basal cell carcinoma syndrome 5 trials Sub-types →
  • Carney complex 4 trials Sub-types →
  • Crouzon syndrome-acanthosis nigricans syndrome 4 trials
  • Multiple endocrine neoplasia type 2A 4 trials
  • Muscular dystrophy, limb-girdle, autosomal dominant 0 trials · 4 incl. sub-types Sub-types →
  • Piebaldism 4 trials
  • Muckle-Wells syndrome 3 trials
  • Noonan syndrome with multiple lentigines 3 trials Sub-types →
  • Autosomal dominant Emery-Dreifuss muscular dystrophy 0 trials · 3 incl. sub-types Sub-types →
  • Autosomal dominant intermediate Charcot-Marie-Tooth disease 0 trials · 3 incl. sub-types Sub-types →
  • Autosomal dominant polycystic liver disease 3 trials Sub-types →
  • Hyper-IgE recurrent infection syndrome 1, autosomal dominant 3 trials
  • Birt-Hogg-Dube syndrome 2 trials Sub-types →
  • Brooke-Spiegler syndrome 0 trials · 2 incl. sub-types Sub-types →
  • Muir-Torre syndrome 2 trials
  • Autosomal dominant nonsyndromic hearing loss 1 trial · 2 incl. sub-types Sub-types →
  • Autosomal dominant progressive external ophthalmoplegia 1 trial · 2 incl. sub-types Sub-types →
  • Autosomal dominant vibratory urticaria 2 trials
  • Hereditary retinoblastoma 2 trials
  • Multiple endocrine neoplasia type 2B 2 trials
  • Nail-patella syndrome 2 trials
  • Denys-Drash syndrome 1 trial
  • Duane-radial ray syndrome 1 trial Sub-types →
  • EEC syndrome 1 trial Sub-types →
  • Timothy syndrome 1 trial Sub-types →
  • Waardenburg syndrome 1 trial Sub-types →
  • Brain small vessel disease 2A, autosomal dominant 1 trial
  • Cherubism 1 trial Sub-types →
  • 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 Sub-types →
  • 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 Sub-types →
  • 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 Sub-types →
  • FLNB-associated autosomal dominant filamin related bone disorder 0 trials Sub-types →
  • Feingold syndrome 0 trials Sub-types →
  • Flynn-Aird syndrome 0 trials
  • Frasier syndrome 0 trials
  • GUCY2D-related dominant retinopathy 0 trials Sub-types →
  • Holt-Oram syndrome 0 trials Sub-types →
  • Houge-Janssens syndrome 2 0 trials
  • IMPG1-related dominant retinopathy 0 trials Sub-types →
  • KINSSHIP syndrome 0 trials
  • LADD syndrome 0 trials Sub-types →
  • 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 Sub-types →
  • PCWH syndrome 0 trials
  • PROM1-related dominant retinopathy 0 trials Sub-types →
  • PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 trials Sub-types →
  • Pelger-Huet anomaly 0 trials
  • Pilarowski-Bjornsson syndrome 0 trials
  • RP1-related dominant retinopathy 0 trials
  • RPE65-related dominant retinopathy 0 trials Sub-types →
  • Rapp-Hodgkin syndrome 0 trials
  • TMEM127-related tumor predisposition 0 trials
  • Townes-Brocks syndrome 0 trials Sub-types →
  • Treacher-Collins syndrome 0 trials Sub-types →
  • 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 Sub-types →
  • Autosomal dominant brachyolmia 0 trials
  • Autosomal dominant cataract 0 trials Sub-types →
  • Autosomal dominant centronuclear myopathy 0 trials
  • Autosomal dominant chondrodysplasia punctata 0 trials Sub-types →
  • Autosomal dominant coarctation of aorta 0 trials
  • Autosomal dominant complex spastic paraplegia 0 trials Sub-types →
  • Autosomal dominant cutis laxa 0 trials Sub-types →
  • Autosomal dominant distal myopathy 0 trials Sub-types →
  • Autosomal dominant distal renal tubular acidosis 0 trials
  • Autosomal dominant epidermolytic ichthyosis 0 trials Sub-types →
  • Autosomal dominant hypohidrotic ectodermal dysplasia 0 trials Sub-types →
  • Autosomal dominant hypophosphatemic rickets 0 trials
  • Autosomal dominant ichthyosis vulgaris 0 trials Sub-types →
  • 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 Sub-types →
  • Autosomal dominant popliteal pterygium syndrome 0 trials
  • Autosomal dominant primary microcephaly 0 trials Sub-types →
  • Autosomal dominant proximal renal tubular acidosis 0 trials
  • Autosomal dominant rhegmatogenous retinal detachment 0 trials
  • Autosomal dominant severe congenital neutropenia 0 trials Sub-types →
  • Autosomal dominant sideroblastic anemia 0 trials
  • Autosomal dominant spastic ataxia 0 trials Sub-types →
  • Autosomal dominant spondylocostal dysostosis 0 trials
  • Autosomal dominant titinopathy 0 trials Sub-types →
  • Blepharocheilodontic syndrome 0 trials Sub-types →
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome 0 trials Sub-types →
  • Branchio-oto-renal syndrome 0 trials Sub-types →
  • 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 Sub-types →
  • Multiple endocrine neoplasia type 4 0 trials
  • Neuronopathy, distal hereditary motor, autosomal dominant 0 trials Sub-types →
  • 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
• Congenital factor XII deficiency 1 trial
• Septooptic dysplasia 1 trial
  2 sub-types

  • Congenital absence of septum pellucidum 0 trials
  • Pagon stephan syndrome 0 trials
• Weill-Marchesani syndrome 0 trials
  4 sub-types

  • Weill-Marchesani 4 syndrome, recessive 0 trials
  • Weill-Marchesani syndrome 1 0 trials
  • Weill-Marchesani syndrome 2, dominant 0 trials
  • Weill-Marchesani syndrome 3 0 trials
• Brachydactyly-syndactyly syndrome 0 trials
• Camptodactyly-tall stature-scoliosis-hearing loss syndrome 0 trials
• Congenital factor XI deficiency 0 trials