Human genes for autosomal recessive spinocerebellar ataxia 3
Autosomal recessive spinocerebellar ataxia 3 [DOID:0111612]
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.
Synonyms: autosomal recessive spinocerebellar ataxia 3, DOID:0111612, autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome, autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome, autosomal recessive spinocerebellar ataxia type 3 ...