Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Your Results
Sign InDescription
Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset of ataxia between age three and 30 years after initial normal development, axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy, and elevated serum concentration of alpha-fetoprotein (AFP).
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
482