Term Name: | spastic ataxia 5 |
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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 ) |