Term Name: | autosomal recessive spinocerebellar ataxia 22 |
---|---|
Synonyms: | SCAR22 |
Definition: | An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the VWA3B gene on chromosome 2q11.2. |
Ontology: | Human Disease [DOID:0111614] ( DOID:0111614 ) |