Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
R-numbers: R164 Signed-off version 1.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peeling skin HP:0040189, Leukonychia HP:0001820, OMIM:#616295, Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295, Punctate palmoplantar hyperkeratosis HP:0007530, Knuckle pads., Cheilitis HP:0100825 |
Green in Ichthyosis and erythrokeratodermaR-numbers: R165 Signed-off version 1.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 616295 |
Green in Palmoplantar keratodermasR-numbers: R166 Signed-off version 1.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads |