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Up to: Autosomal genetic disease

Autosomal recessive disease

Autosomal recessive form of disease.

4 trials tagged with this condition →

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 →
Peroxisome biogenesis disorder 4 trials · 8 incl. sub-types Sub-types →
Autosomal recessive primary microcephaly 0 trials · 8 incl. sub-types Sub-types →
Autosomal recessive inherited pseudoxanthoma elasticum 7 trials
Bardet-Biedl syndrome 6 trials · 7 incl. sub-types Sub-types →
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency 6 trials · 7 incl. sub-types Sub-types →
RPE65-related recessive retinopathy 5 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 polycystic kidney disease 6 trials Sub-types →
Thiamine-responsive megaloblastic anemia syndrome 6 trials
Autosomal recessive hypophosphatemic rickets 5 trials · 6 incl. sub-types Sub-types →
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
Triple-A syndrome 3 trials
Autosomal recessive severe congenital neutropenia 0 trials · 3 incl. sub-types Sub-types →
Werner syndrome 2 trials
Autosomal recessive Alport syndrome 2 trials
Autosomal recessive sideroblastic anemia 2 trials 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 →
Senior-Loken syndrome 1 trial · 2 incl. sub-types Sub-types →
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 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 →
Alstrom syndrome 1 trial
COFS syndrome 1 trial Sub-types →
Ellis-van Creveld syndrome 1 trial 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
TH-deficient dopa-responsive dystonia 1 trial
Autosomal recessive cutis laxa type 1 1 trial Sub-types →
Beta-ketothiolase deficiency 1 trial
Cartilage-hair hypoplasia 1 trial 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
Hyper-IgM syndrome type 2 1 trial
Immunodeficiency 31B 1 trial
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 trial Sub-types →
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 1 trial
GUCY2D-related recessive retinopathy 0 trials · 1 incl. sub-types Sub-types →
Seckel syndrome 0 trials · 1 incl. sub-types 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 →
Congenital non-bullous ichthyosiform erythroderma 0 trials · 1 incl. sub-types Sub-types →
Hydrolethalus syndrome 0 trials · 1 incl. sub-types Sub-types →
Intellectual disability, autosomal recessive 0 trials · 1 incl. sub-types Sub-types →
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