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autosomal recessive spinocerebellar ataxia 2
Summary
- Synonym
-
- SCAR2
- Definition
- An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34.
- Super Class
- autosomal recessive cerebellar ataxia
External Links
- Disease Ontology
- DOID:0080061
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q10713 | Mitochondrial-processing peptidase subunit alpha |
