PKP1

PanelMode of inheritanceDetails
3 panels
R-numbers: R163
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectodermal dysplasia/skin fragility syndrome, 604536, Ectodermal Dysplasia/Skin Fragility Syndrome
R-numbers: R164
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectodermal dysplasia/skin fragility syndrome, OMIM:604536
R-numbers: R166
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desmosomal disorders