GJB6

gap junction protein beta 6
OMIM: 604418
PanelMode of inheritanceDetails
2 panels
R-numbers: R163
Signed-off version 1.10
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ectodermal dysplasia 2, Clouston type, 129500, Clouston syndrome, Hidrotic Ectodermal Dysplasia
R-numbers: R165
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ectodermal dysplasia 2, Clouston type, 129500, Clouston syndrome, palmoplantar hyperkeratosis, ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT