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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:0001260 | Dysarthria |
| HP:0002355 | Difficulty walking |
| HP:0000639 | Nystagmus |
| HP:0003474 | Somatic sensory dysfunction |
| HP:0001337 | Tremor |
| HP:0000514 | Slow saccadic eye movements |
| HP:0002460 | Distal muscle weakness |
| HP:0001272 | Cerebellar atrophy |
| HP:0009830 | Peripheral neuropathy |
| HP:0000708 | Atypical behavior |
