Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R164 Signed-off version 1.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes EHK, Epidermolytic hyperkeratosis, 113800, Islands of superficial peeling on the skin of the trunk and the extensor surface of the legs |
Green in Ichthyosis and erythrokeratodermaR-numbers: R165 Signed-off version 1.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Palmoplantar keratoderma, nonepidermolytic, 600962, Palmoplantar keratoderma, epidermolytic, 1, Ichthyosis histrix, Curth-Macklin type, 146590, Epidermolytic hyperkeratosis, 113800, Diffuse palmoplantar keratoderma, Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602, triate keratoderma |
R-numbers: R327 Signed-off version 1.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Epidermolytic hyperkeratosis, Palmoplantar keratoderma, Ichthyosis histrix |
Green in Palmoplantar keratodermasR-numbers: R166 Signed-off version 1.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Ichthyosis histrix, Palmoplantar keratoderma, Epidermolytic hyperkeratosis |