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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:0008003 | Jerky ocular pursuit movements |
| HP:0001272 | Cerebellar atrophy |
| HP:0002403 | Positive Romberg sign |
