OBO ID: DOID:0050755 |
Term Name: | spinocerebellar ataxia with axonal neuropathy 2 | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0050755 ) |
OTHER spinocerebellar ataxia with axonal neuropathy 2 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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