Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 7.7 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262, Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660, Lethal congenital contracture syndrome 10, OMIM:617022, NEK9-related lethal skeletal dysplasia, MONDO:0014870 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262, Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660, Lethal congenital contracture syndrome 10, OMIM:617022, NEK9-related lethal skeletal dysplasia, MONDO:0014870 |