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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003011 | Abnormality of the musculature |
| HP:0000966 | Hypohidrosis |
| HP:0100022 | Abnormality of movement |
| HP:0001260 | Dysarthria |
| HP:0000639 | Nystagmus |
| HP:0002075 | Dysdiadochokinesis |
| HP:0002380 | Fasciculations |
| HP:0011462 | Young adult onset |
| HP:0001019 | Erythroderma |
| HP:0003829 | Typified by incomplete penetrance |
