OBO ID: DOID:0050941 |
Term Name: | spastic ataxia 2 | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0050941 ) |
OTHER spastic ataxia 2 PAGES
ZEBRAFISH MODELS
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PHENOTYPE
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CITATIONS: None
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