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Human Disease
spastic ataxia 5
- Term ID
- DOID:0050944
- Synonyms
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- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0050944 )
- is a type of
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