spastic ataxia 2

Term ID

DOID:0050941

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

• OMIM:611302

Ontology

Human Disease   ( DOID:0050941 )