has material basis in germline mutation in PCDH19 developmental and epileptic encephalopathy, 9 https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/developmental_and_epileptic_encephalopathy_9 developmental and epileptic encephalopathy, 9 developmental and epileptic encephalopathy 9 GARD:0010806 DOID:0060848 female restricted epilepsy with intellectual disability OMIM:300088 epilepsy and mental retardation limited to females MONDO:0010246 NANDO:1200599 EIEE9 EFMR epilepsy, female restricted, with intellectual disability early infantile epileptic encephalopathy caused by mutation in PCDH19 epileptic encephalopathy, early infantile, type 9 PCDH19-related female-limited epilepsy MEDGEN:338393 early infantile epileptic encephalopathy type 9 epilepsy, female-restricted, with mental retardation Juberg-Hellman syndrome familial epilepsy and intellectual disability limited to females Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance. UMLS:C1848137 PCDH19-related infantile epileptic encephalopathy female restricted epilepsy with intellectual deficit epileptic encephalopathy, early infantile, 9 familial epilepsy and mental retardation limited to females Orphanet:101039 epilepsy and intellectual disability limited to females PCDH19-related FLE DEE9 epilepsy, female restricted, with mental retardation MESH:C564715 PCDH19 early infantile epileptic encephalopathy X-linked intellectual disability-epilepsy syndrome genetic developmental and epileptic encephalopathy X-linked complex neurodevelopmental disorder