Female restricted epilepsy with intellectual deficit

General Information (adopted from Orphanet):

Synonyms, Signs: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION
JUBERG-HELLMAN SYNDROME
EIEE9
EFMR
Familial epilepsy and mental retardation limited to females
Number of Symptoms 23
OrphanetNr: 101039
OMIM Id: 300088
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
[Orphanet]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: X-linked intellectual deficit - epilepsy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001263) Global developmental delay Common [HPO:probinson] 853 / 7739
2
 (HPO:0000718) Aggressive behavior 109 / 7739
3
 (HPO:0001250) Seizures 1245 / 7739
4
 (HPO:0010819) Atonic seizures 18 / 7739
5
 (HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
6
 (HPO:0000709) Psychosis 61 / 7739
7
 (HPO:0007359) Focal seizures 27 / 7739
8
 (HPO:0011147) Typical absence seizures 33 / 7739
9
 (HPO:0002121) Absence seizures 62 / 7739
10
 (HPO:0002123) Generalized myoclonic seizures 62 / 7739
11
 (HPO:0001249) Intellectual disability Variable [HPO:skoehler] 1089 / 7739
12
 (HPO:0002133) Status epilepticus 59 / 7739
13
 (OMIM) Obsessive features 1 / 7739
14
 (OMIM) [DEL]Autistic features 43 / 7739
15
 (OMIM) Carrier males show controlling and inflexible traits 1 / 7739
16
 (HPO:0003593) Infantile onset 249 / 7739
17
 (OMIM) Developmental regression in about 50% of patients 1 / 7739
18
 (HPO:0001417) X-linked inheritance 173 / 7739
19
 (OMIM) Seizures often associated with fever (63%) 1 / 7739
20
 (OMIM) Carrier males show rigid personality 1 / 7739
21
 (OMIM) Normal development in some patients 1 / 7739
22
 (OMIM) Carrier males show obsessive features 1 / 7739
23
 (OMIM) Delayed development, variable severity, from birth in some patients 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Juberg and Hellman (1971) reported a family in which 15 females, related either as sisters or first cousins through their fathers, had a grand mal convulsive disorder of early onset associated with mental retardation. In the sibship of ...
Molecular genetics OMIM In female patients with the syndrome of female-restricted epilepsy and mental retardation (EIEE9), Dibbens et al. (2008) identified 6 different mutations in the PCDH19 gene (e.g., 300460.0001-300460.0005). One of the families had been reported by Juberg and Hellman ...