Autosomal Recessive Disorders
19 entries in the Autosomal Recessive Disorders compendium.
Prevention of autosomal recessive disordersReducing carrier couple pregnancies through testing and reproductive options.2-Hydroxyglutaric aciduriaA neurometabolic disorder with elevated urinary hydroxyglutaric acid.2-Methylbutyryl-CoA dehydrogenase deficiencyA metabolic disorder often asymptomatic, identified via newborn screening.6-Pyruvoyltetrahydropterin synthase deficiencyA BH4 deficiency causing hyperphenylalaninemia and movement disorders.AcatalasiaA rare disorder caused by catalase deficiency, first identified in 1948.AceruloplasminemiaA disorder of iron transport causing neurological decline and diabetes.Acrodermatitis enteropathicaAutosomal recessive disorder of zinc uptake causing dermatitis, alopecia, and diarrhea.Acute fatty liver of pregnancyA rare pregnancy complication from fetal fatty acid metabolism disorder.Adducted thumb syndromeRare autosomal recessive disorder with multiple malformations.Adenine phosphoribosyltransferase deficiencyA rare metabolic disorder causing kidney stones and renal failure.Albinism in humansA congenital condition with reduced melanin causing vision and skin issues.Alwadei syndromeA rare autosomal recessive neurodevelopmental disorder with intellectual disability.Aminolevulinic acid dehydratase deficiency porphyriaAn extremely rare hepatic porphyria from ALAD deficiency.Argininosuccinic aciduriaA urea cycle disorder causing ammonia buildup and neurological issues.AspartylglucosaminuriaA lysosomal storage disorder causing progressive intellectual decline.Ataxia with oculomotor apraxia type 1A rare disorder causing ataxia, oculomotor apraxia, and hypoalbuminemia.Atelosteogenesis, type IISevere autosomal recessive skeletal disorder with prenatal lethality.Autosomal recessive multiple epiphyseal dysplasiaA mild skeletal disorder from SLC26A2 mutations.Bare lymphocyte syndrome type IIA recessive disorder with absent MHC class II expression.
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