Term Name: | autosomal recessive spinocerebellar ataxia 6 |
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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 ) |