developmental and epileptic encephalopathy 27

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: grin2b

MIM:

MIM:616139 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27; DEE27

MIM:616139 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27; DEE27

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), developmental and epileptic encephalopathy (is_a)