EDN3

PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.42
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Waardenburg syndrome, type 4B, 613265, Central hypoventilation syndrome, congenital, 209880, {Hirschsprung disease, susceptibility to}, 613712
R-numbers: R438
Signed-off version 1.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Waardenburg syndrome, type 4B, OMIM:613265, {Hirschsprung disease, susceptibility to, 4}, OMIM:613712
R-numbers: R236
Signed-off version 3.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
WAARDENBURG SYNDROME, TYPE 4B, WS4B, Waardenburg syndrome