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DOID:0111450 - progressive myoclonus epilepsy 9
Disease Ontology Definition:A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3.
Synonyms: EMP9, PME type 9, progressive myoclonic epilepsy due to LMNB2 deficiency, progressive myoclonus epilepsy type 9
Xenbase Genes : lmnb2
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee