ataxia with oculomotor apraxia type 3 (DOID:0060557)
Alliance: disease page
Synonyms: ataxia-oculomotor apraxia 3
Alt IDs: OMIM:615217
Definition: An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13.