|
DOID:0111691 - familial adult myoclonic epilepsy 5
Disease Ontology Definition:A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1.
Synonyms: FAME5, FCMTE5, familial cortical myoclonic tremor and epilepsy 5,
Xenbase Genes : cntn2
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee