Disease #01263

Official abbreviation BFNS-2
Name seizures, neonatal, benign, familial, type 2 (BFNS-2)
OMIM ID 121201
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene KCNQ3
Associated tissues -
Disease features -
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00111696 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 2-generation family, 4 affecteds (F, 3M) M - France - - 0 - - BFNS-2 see paper; … KCNQ3 KCNQ3 1 4 Gaetan Lesca
Legend