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Human Disease

spinocerebellar ataxia with axonal neuropathy 2

Term ID
DOID:0050755
Synonyms
  • AOA2
  • ataxia with oculomotor apraxia type 2
  • autosomal recessive spinocerebellar ataxia 1
  • autosomal recessive spinocerebellar ataxia with axonal neuropathy 2
  • SCAN2
  • SCAR1
  • spinocerebellar ataxia with axonal neuropathy type 2
Definition
An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal. (3)
References
Ontology
Human Disease   ( DOID:0050755 )
Relationships
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Genes Involved
Zebrafish Models