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DOID:0080447 - developmental and epileptic encephalopathy 43
Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11.
Synonyms: DEE43, early infantile epileptic encephalopathy 43,
Xenbase Genes :
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee