SEIZURES, BENIGN FAMILIAL NEONATAL, 3
General Information (adopted from Orphanet):
Synonyms, Signs:
CONVULSIONS, BENIGN FAMILIAL NEONATAL, 3
BFNC3
BFNS3
Number of Symptoms
3
OrphanetNr:
OMIM Id:
608217
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:
Prevalence, inheritance and age of onset:
Prevalence:
No data available.
Inheritance:
Autosomal dominant inheritance
[Omim]
Age of onset:
Infantile onset
[Omim]
Disease classification (adopted from Orphanet):
Parent Diseases:
No data available.
Symptom Information
Symptom
Abundance
Frequency
Pubmed
Source
DB Freq
1
(HPO:0002069)
Generalized tonic-clonic seizures
96 / 7739
2
(HPO:0000006)
Autosomal dominant inheritance
2518 / 7739
3
(HPO:0003593)
Infantile onset
249 / 7739
ClinVar (via SNiPA)
Gene symbol
Variation
Clinical significance
Reference
Additional Information:
Clinical Description
OMIM
Concolino et al. (2002) reported a family in which 3 members over 3 generations had benign neonatal seizures inherited in an autosomal dominant pattern.