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Summary Literature (0)
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


OMIM:
OMIM:615473 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17; DEE17

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a)