developmental and epileptic encephalopathy 59

Summary

DOID:0080291 - developmental and epileptic encephalopathy 59

Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22.

Synonyms: DEE59, early infantile epileptic encephalopathy 59

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

: gabbr2

MIM:

MIM:617904 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59; DEE59

MIM:617904 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59; DEE59

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)