Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes LARSEN SYNDROME |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joint laxity, short stature, and myopia, OMIM:617662, Joint laxity, short stature, and myopia, MONDO:0060556 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Larsen syndrome, joint laxity, short stature, and myopia OMIM:617662, joint laxity, short stature, and myopia MONDO:0060556 |
Green in Stickler syndromeR-numbers: R45 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Larsen syndrome, MONDO:0007875 |