Visit Metagene.de!
Summary
ATAXIA-OCULOMOTOR APRAXIA 3 AOA3
615217
OMIM = Online Medalian Inheritance of Men
---
17p13.1
very rare
autosomal recessive
mutation in the PIK3R5 gene
symptoms
areflexia
ataxia
cerebellar atrophy or hypoplasia
dysarthria
eye movements, abnormal
hyporeflexia
muscle atrophy
muscle weakness
nystagmus
onset, adolescent
laboratory finding
alpha-Fetoprotein serum
Literature
Chou CL,et al.Acquired bartter-like syndrome associated with gentamicin administrationAm J Med Sci3293144-1492005