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spinocerebellar ataxia type 26
Summary
- Definition
- An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the EEF2 gene.
- Super Class
- autosomal dominant cerebellar ataxia
External Links
- Disease Ontology
- DOID:0050975
- Mondo Disease Ontology
- MeSH
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P13639 | Elongation factor 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002073 | Progressive cerebellar ataxia |
| HP:0001250 | Seizure |
| HP:0003474 | Somatic sensory dysfunction |
| HP:0000641 | Dysmetric saccades |
| HP:0002380 | Fasciculations |
| HP:0007034 | Generalized hyperreflexia |
| HP:0001272 | Cerebellar atrophy |
| HP:0000639 | Nystagmus |
| HP:0002078 | Truncal ataxia |
| HP:0003487 | Babinski sign |
