Term Name: | spastic ataxia 2 |
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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. |
Ontology: | Human Disease [DOID:0050941] ( DOID:0050941 ) |