Term Name: spastic ataxia 2
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 )

Relationships
is a type of: autosomal recessive disease spastic ataxia