ataxia with oculomotor apraxia type 1 (DOID:0050754)
Alliance: disease page
Alt IDs: OMIM:208920
Definition: An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene.