SEIZURES, BENIGN FAMILIAL NEONATAL, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: CONVULSIONS, BENIGN FAMILIAL NEONATAL, AUTOSOMAL RECESSIVE
BFNS, AUTOSOMAL RECESSIVE
EPILEPSY, BENIGN FAMILIAL NEONATAL, AUTOSOMAL RECESSIVE
Number of Symptoms 7
OrphanetNr:
OMIM Id: 269720
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001276) Hypertonia 317 / 7739
2
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
3
(HPO:0002372) Normal interictal EEG 5 / 7739
4
(OMIM) Hypertonia in neonatal period 1 / 7739
5
(OMIM) Patients may develop a seizure disorder later in life 1 / 7739
6
(OMIM) Normal psychomotor development 8 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: