Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 8.6 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Wieacker-Wolff syndrome, OMIM:314580, Wieacker-Wolff syndrome, female-restricted, OMIM:301041 |
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.5 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Wieacker-Wolff syndrome, female-restricted, OMIM:301041 |
Green in Congenital myopathyComponent of the following Super Panels:
R-numbers: R81 Signed-off version 5.15 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Wieacker-Wolff syndrome, OMIM:314580, Wieacker-Wolff syndrome, female-restricted, OMIM:301041 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.48 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY 314580 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.80 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Wieacker-Wolff syndrome, OMIM:314580, Wieacker-Wolff syndrome, female-restricted, OMIM:301041 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.134 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Wieacker-Wolff syndrome, OMIM:314580, Wieacker-Wolff syndrome, female-restricted, OMIM:301041 |