developmental and epileptic encephalopathy 17

Summary

DOID:0080450 - developmental and epileptic encephalopathy 17

Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13.

Synonyms: DEE17, early infantile epileptic encephalopathy 17

Echinobase 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

: gnao1

MIM:

MIM:615473 - epileptic encephalopathy, early infantile, 17; eiee17

MIM:615473 - epileptic encephalopathy, early infantile, 17; eiee17

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)