Metadata | |
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ID | DOID:0050941 |
Name | spastic ataxia 2 |
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 |
Xrefs | |
Parent Relationships |
is_a spastic ataxia |