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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: EFMR, EIEE9, female restricted epilepsy with mental retardation, Juberg Hellman syndrome, DEE9, early infantile epileptic encephalopathy 9, early infantile female-limited epilecptic encephalopathy
Echinobase Genes
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| MIM:300088 - epileptic encephalopathy, early infantile, 9; eiee9 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee