Term Name: autosomal recessive spinocerebellar ataxia 6
Synonyms: autosomal recessive spinocerebellar ataxia type 6, infantile-onset autosomal recessive nonprogressive cerebellar ataxia, SCAR6
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.
Ontology: Human Disease [DOID:0111617]   ( DOID:0111617 )

Relationships
is a type of: autosomal recessive cerebellar ataxia