DISEASES

Disease-gene associations mined from literature

Human genes for spastic ataxia 2

Spastic ataxia 2 [DOID:0050941]

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.

Synonyms:  spastic ataxia 2,  DOID:0050941