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Summary Literature (0)
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 : gabbr2


OMIM:
OMIM:617904 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59; DEE59

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)