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spinocerebellar ataxia type 38
Summary
- Definition
- An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene.
- Super Class
- autosomal dominant cerebellar ataxia
External Links
- Disease Ontology
- DOID:0050985
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NYP7 | Very long chain fatty acid elongase 5 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002066 | Gait ataxia |
| HP:0011462 | Young adult onset |
| HP:0001251 | Ataxia |
| HP:0003596 | Middle age onset |
| HP:0006855 | Cerebellar vermis atrophy |
| HP:0001336 | Myoclonus |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0002070 | Limb ataxia |
| HP:0003677 | Slowly progressive |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem |
