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Metadata
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

MIM:611302

Parent Relationships

is_a spastic ataxia

is_a autosomal recessive disease

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