Human genes for autosomal recessive spinocerebellar ataxia 12
Autosomal recessive spinocerebellar ataxia 12 [DOID:0080060]
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.
Synonyms: autosomal recessive spinocerebellar ataxia 12, DOID:0080060