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Echinobase
Summary Literature (0)
DOID:0060848 - early infantile epileptic encephalopathy 9

Disease Ontology Definition:An infantile epileptic encephalopathy that has_material_basis_in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22.

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

Echinobase Genes :


OMIM:
MIM:300088 - epileptic encephalopathy, early infantile, 9; eiee9

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

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