| Metadata | |
|---|---|
| ID | DOID:0050755 |
| Name | spinocerebellar ataxia with axonal neuropathy 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. https://pubmed.ncbi.nlm.nih.gov/19696032/, https://pubmed.ncbi.nlm.nih.gov/23786967/, https://www.ncbi.nlm.nih.gov/books/NBK1154/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
AOA2 [EXACT] ataxia with oculomotor apraxia type 2 [EXACT] autosomal recessive spinocerebellar ataxia 1 [EXACT] autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 [EXACT] SCAN2 [EXACT] SCAR1 [EXACT] spinocerebellar ataxia with axonal neuropathy type 2 [EXACT] |
| Parent Relationships |