Human genes for ataxia with oculomotor apraxia type 1
Ataxia with oculomotor apraxia type 1 [DOID:0050754]
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.
Synonyms: ataxia with oculomotor apraxia type 1, DOID:0050754