Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature, Cousin Syndrome |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature, Cousin Syndrome |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cousin syndrome 260660 |