spastic ataxia 5

Term ID

DOID:0050944

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. https://www.ncbi.nlm.nih.gov/pubmed/22022284

References

• MIM:614487

Ontology

Human Disease   ( DOID:0050944 )