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DOID:0080444 - developmental and epileptic encephalopathy 27
Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12.
Synonyms: DEE27, early infantile epileptic encephalopathy 27,
Xenbase Genes
:
grin2b
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a)