EDN3

PanelMode of inheritanceDetails
2 panels
R-numbers: R67
Signed-off version 3.3
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: R236
Signed-off version 2.1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
WAARDENBURG SYNDROME, TYPE 4B, WS4B, Waardenburg syndrome