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spinocerebellar ataxia 46
Summary
- Definition
- An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13.
- Super Class
- autosomal dominant cerebellar ataxia
External Links
- Disease Ontology
- DOID:0080288
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8IV08 | 5'-3' exonuclease PLD3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002070 | Limb ataxia |
| HP:0001260 | Dysarthria |
| HP:0003677 | Slowly progressive |
| HP:0000514 | Slow saccadic eye movements |
| HP:0003390 | Sensory axonal neuropathy |
| HP:0001310 | Dysmetria |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0002066 | Gait ataxia |
| HP:0003581 | Adult onset |
| HP:0000639 | Nystagmus |
