Search Ontology:
Human Disease
spastic ataxia 2
- Term ID
- DOID:0050941
- Synonyms
-
- Definition
- A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/17273843
- References
- Ontology
- Human Disease ( DOID:0050941 )
- is a type of
-
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Genes Involved
| Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
|---|---|---|---|---|
| KIF1C | Spastic ataxia 2, autosomal recessive | spastic ataxia 2 | 611302 |
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Zebrafish Models
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