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DOID:0080291 - developmental and epileptic encephalopathy 59
Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22.
Synonyms: DEE59, early infantile epileptic encephalopathy 59,
Xenbase Genes : gabbr2
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a)