Human genes for autosomal recessive spinocerebellar ataxia 6
Autosomal recessive spinocerebellar ataxia 6 [DOID:0111617]
An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13.
Synonyms: autosomal recessive spinocerebellar ataxia 6, DOID:0111617, autosomal recessive spinocerebellar ataxia type 6, infantile-onset autosomal recessive nonprogressive cerebellar ataxia, SCAR6 ...