ataxia-oculomotor apraxia type 4 (DOID:0081383)
Alliance: disease page
Alt IDs: OMIM:616267, ORDO:459033
Definition: An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13.