label: Ataxia-Oculomotor Apraxia Type 1
label_lc: ataxia-oculomotor apraxia type 1
description: "An autosomal recessive cerebellar ataxia caused by mutation(s) in the APTX gene, encoding aprataxin. It is characterized by peripheral axonal neuropathy, oculomotor apraxia, and hypoalbuminemia."