Health / Medical Topics |
Autosomal Recessive Inherited Disorder
An inherited disorder manifested only when two copies of a mutated gene are present. (NCI Thesaurus)
YOU MAY ALSO LIKE
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e.,…
A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability…
Polycystic kidney disease inherited in an autosomal dominant pattern. Symptoms usually appear at middle age and include abdominal pain, hematuria and high…
An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.
An inherited disorder that manifests when one copy of a mutated gene is present.
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e.,…