Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 2.2 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Focal dermal hypoplasia, 305600, GOLTZ SYNDROME |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes FOCAL DERMAL HYPOPLASIA 305600 |
Green in Ectodermal dysplasiaR-numbers: R163 Signed-off version 1.10 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Focal dermal hypoplasia 305600 |
Green in Fetal anomaliesR-numbers: R21 Signed-off version 1.92 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes FOCAL DERMAL HYPOPLASIA |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Focal dermal hypoplasia, 305600, FOCAL DERMAL HYPOPLASIA (FODH) |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 2.2 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes focal dermal hypoplasia 305600, Polydactyly |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 1.4 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Angioma serpiginosa, FOCAL DERMAL HYPOPLASIA, Focal dermal hypoplasia, FDH |
Green in Structural eye diseaseR-numbers: R36 Signed-off version 1.3 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Focal dermal hypoplasia 305600 |