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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:0007256 | Abnormal pyramidal sign |
| HP:0001251 | Ataxia |
| HP:0007772 | Impaired smooth pursuit |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0003596 | Middle age onset |
| HP:0002066 | Gait ataxia |
