Term Name: spastic ataxia 5
Synonyms:
Definition: 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.
Ontology: Human Disease [DOID:0050944]   ( DOID:0050944 )

Relationships
is a type of: autosomal recessive disease spastic ataxia