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DOID:0050941 - spastic ataxia 2
Disease Ontology 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.
Synonyms:
Xenbase Genes : kif1c
MONDO:0012651 - spastic ataxia 2 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee