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spinocerebellar ataxia type 34
Summary
- Definition
- An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene.
- Super Class
- autosomal dominant cerebellar ataxia
External Links
- Disease Ontology
- DOID:0050981
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9GZR5 | Very long chain fatty acid elongase 4 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001265 | Hyporeflexia |
| HP:0200034 | Papule |
| HP:0000958 | Dry skin |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0000486 | Strabismus |
| HP:0002073 | Progressive cerebellar ataxia |
| HP:0012733 | Macule |
| HP:0001025 | Urticaria |
| HP:0000324 | Facial asymmetry |
| HP:0001288 | Gait disturbance |
