GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr:
OMIM Id: 616172
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002121) Absence seizures 62 / 7739
2
(HPO:0010819) Atonic seizures 18 / 7739
3
(HPO:0002384) Focal seizures with impairment of consciousness or awareness 17 / 7739
4
(HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
5
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: