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DOID:0112202 - developmental and epileptic encephalopathy
Disease Ontology Definition:An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood.
Synonyms:
Xenbase Genes
:
atp6v1a,
slc12a5,
gnao1,
ntrk2,
stxbp1,
pigp,
grin2b,
chd2,
cdkl5,
ywhag,
ppp3ca,
uba5,
synj1,
adam22,
rhobtb2,
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
electroclinical syndrome (is_a)