| Panel | Mode of inheritance | Details |
|---|---|---|
9 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.3 | 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, GOLTZ SYNDROME |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | 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 3.0 | 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, R412 Signed-off version 5.0 | 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 8.0 | 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 6.2 | 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 |
R-numbers: R327 Signed-off version 2.0 | 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, OMIM:305600, focal dermal hypoplasia, MONDO:0010592 |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | 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 4.0 | 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 |