label: Ataxia-Oculomotor Apraxia Type 3
label_lc: ataxia-oculomotor apraxia type 3
description: An autosomal recessive cerebellar ataxia caused by mutation(s) in the PIK3R5 gene, encoding phosphoinositide 3-kinase regulatory subunit 5. It is characterized by oculomotor apraxia and distal muscle atrophy and weakness, predominantly affecting the lower limbs.