autosomal recessive spinocerebellar ataxia 12 (DOID:0080060)
Alliance: disease page
Synonyms: SCAR12
Alt IDs: OMIM:614322
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.