OBO ID: DOID:0050941
Term Name: spastic ataxia 2 Search Ontology:
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)
OTHER spastic ataxia 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KIF1C Spastic ataxia 2, autosomal recessive 611302
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None