PKP1

PanelMode of inheritanceDetails
3 panels
R-numbers: R163
Signed-off version 1.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectodermal dysplasia/skin fragility syndrome, 604536, Ectodermal Dysplasia/Skin Fragility Syndrome
R-numbers: R164
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectodermal dysplasia/skin fragility syndrome, 604536, McGrath Syndrome, Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa
R-numbers: R166
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desmosomal disorders