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DOID:0080421 - developmental and epileptic encephalopathy 11
Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24.
Synonyms: DEE11, early infantile epileptic encephalopathy 11,
Xenbase Genes
:
scn2a
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)