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Summary Literature (0)
DOID:0060848 - developmental and epileptic encephalopathy 9

Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22.

Synonyms: DEE9, early infantile epileptic encephalopathy 9, early infantile female-limited epilecptic encephalopathy, EFMR, EIEE9, female restricted epilepsy with mental retardation, Juberg Hellman syndrome

Xenbase Genes : pcdh19

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010246 - developmental and epileptic encephalopathy, 9


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): developmental and epileptic encephalopathy (is_a)