Disease association ontology term - MONDO:0018996 - spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Term summary
- ID
- MONDO:0018996
- Name
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
- Ontology or CV name
- Disease association
- Definition
- A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.
