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DOID DOID:0050944
Name spastic ataxia 5
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, https://www.omim.org/entry/614487
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OMIM:614487

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is_a spastic ataxia

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