Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Osteogenesis imperfectaR-numbers: R102 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Osteogenesis imperfecta, type XXI, OMIM:619131, Increased susceptibility to fractures, Joint hypermobility, Scoliosis, Bowing of the legs and arms |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Osteogenesis imperfecta, type XXI, OMIM:619131, Increased susceptibility to fractures, Joint hypermobility, Scoliosis, Bowing of the legs and arms |