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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:0001260 | Dysarthria |
| HP:0007240 | Progressive gait ataxia |
| HP:0002070 | Limb ataxia |
| HP:0001151 | Impaired horizontal smooth pursuit |
| HP:0003470 | Paralysis |
| HP:0003677 | Slowly progressive |
| HP:0002311 | Incoordination |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0003581 | Adult onset |
| HP:0002066 | Gait ataxia |
