Term Name: | autosomal recessive spinocerebellar ataxia 24 |
---|---|
Synonyms: | SCAR24 |
Definition: | An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.1. |
Ontology: | Human Disease [DOID:0111615] ( DOID:0111615 ) |