KRT5

PanelMode of inheritanceDetails
2 panels
R-numbers: R164
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epidermolysis Bullosa Simplex, Dowling-Meara Type, Epidermolysis Bullosa Simplex, Epidermolysis bullosa simplex, Dowling-Meara type, 131760, Epidermolysis Bullosa Simplex, Generalized, Epidermolysis bullosa simplex, Koebner type, 131900, Epidermolysis bullosa simplex with mottled pigmentation, 131960, Epidermolysis Bullosa Simplex, Localized, Epidermolysis bullosa simplex, Weber-Cockayne type, 131800
R-numbers: R236
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
DOWLING-DEGOS DISEASE 1, DDD1, Epidermolysis bullosa, Dowling-Degos disease