| Panel | Mode of inheritance | Details |
|---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes BOERJESON-FORSSMAN-LEHMANN SYNDROME 301900 |
Green in Fetal anomaliesR-numbers: R21, R412 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 Borjeson-Forssman-Lehmann syndrome, OMIM:301900 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Borjeson-Forssman-Lehmann syndrome, OMIM:301900 |
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 Borjeson-Forssman-Lehmann syndrome, OMIM:301900, Fine and whorled Blaschko-linear hypo or hyperpigmentation |
Green in Severe early-onset obesityR-numbers: R149 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 Borjeson-Forssman-Lehmann syndrome, OMIM:301900 |