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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,
Xenbase Genes
:
gnao1
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)