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DOID:0080427 - developmental and epileptic encephalopathy 40
Disease Ontology Definition:A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12.
Synonyms: DEE40, early infantile epileptic encephalopathy 40,
Xenbase Genes :
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee