autosomal recessive spinocerebellar ataxia 23 (DOID:0111613)
Alliance: disease page
Synonyms: autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency; SCAR23
Alt IDs: OMIM:616949, ORDO:404493
Definition: An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3.