Term Name: | autosomal recessive spinocerebellar ataxia 21 |
---|---|
Synonyms: | acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, autosomal recessive spinocerebellar ataxia 21 with hepatopathy, SCAR21 |
Definition: | An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. |
Ontology: | Human Disease [DOID:0111155] ( DOID:0111155 ) |