Ataxia-Oculomotor Apraxia Type 3

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - AOA3