Term Name: | autosomal recessive spinocerebellar ataxia 12 |
---|---|
Synonyms: | SCAR12 |
Definition: | An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23. |
Ontology: | Human Disease [DOID:0080060] ( DOID:0080060 ) |