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Summary Literature (0)
DOID:0050944 - spastic ataxia 5


Disease Ontology 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.

Synonyms:

Xenbase Genes : afg3l2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013776 - spastic ataxia 5


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), spastic ataxia (is_a)