Human genes for spastic ataxia 5
Spastic ataxia 5 [DOID:0050944]
A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11.
Synonyms: spastic ataxia 5, DOID:0050944