Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.1 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, OSCS, Cleft palate |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS 300373 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Osteopathia striata with cranial sclerosis 300373 |
Green in OsteopetrosisR-numbers: R104.4 Signed-off version 1.1 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Osteopathia striata with cranial sclerosis 300373 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.16 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Osteopathia striata with cranial sclerosis 300373, Osteopathia striata with cranial sclerosis 300373 |