Metadata | |
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ID | 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 |
Xrefs | |
Parent Relationships |
is_a spastic ataxia |