Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Enhanced Growth and Connective Tissue Abnormalities |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Boudin-Mortier syndrome, OMIM:619543, Boudin-Mortier syndrome, MONDO:0859194 |