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spastic ataxia 5
Summary
- 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.
- Super Class
- autosomal recessive disease spastic ataxia
External Links
- Disease Ontology
- DOID:0050944
- Mondo Disease Ontology
- OMIM
