autosomal recessive spinocerebellar ataxia 6 (DOID:0111617)
Alliance: disease page
Synonyms: autosomal recessive spinocerebellar ataxia type 6; infantile-onset autosomal recessive nonprogressive cerebellar ataxia; SCAR6
Alt IDs: OMIM:608029, MESH:C537312, ORDO:284332, UMLS_CUI:C1842676
Definition: 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.