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Summary Literature (0)
DOID:0080418 - developmental and epileptic encephalopathy 54

Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44.

Synonyms: DEE54, early infantile epileptic encephalopathy 54,

Xenbase Genes :



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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee