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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:0002070 | Limb ataxia |
| HP:0000605 | Supranuclear gaze palsy |
| HP:0003584 | Late onset |
| HP:0001347 | Hyperreflexia |
| HP:0007543 | Epidermal hyperkeratosis |
| HP:0001257 | Spasticity |
| HP:0002080 | Intention tremor |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0001272 | Cerebellar atrophy |
