autosomal recessive spinocerebellar ataxia 3 (DOID:0111612)
Alliance: disease page
Synonyms: autosomal recessive spinocerebellar ataxia type 3; autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome; autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome; SCABD; SCAR3
Alt IDs: OMIM:271250, MESH:C537309, ORDO:95433, UMLS_CUI:C1849094
Definition: An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21.