Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 5.21 | 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 3.79 | 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 3.122 | 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 5.343 | 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 |