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Summary Literature (0)
DOID:0080436 - developmental and epileptic encephalopathy 4

Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1.

Synonyms: DEE4, early infantile epileptic encephalopathy 4,

Xenbase Genes : stxbp1



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)