Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Weill-Marchesani syndrome 1, recessive 277600 |
R-numbers: R31 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Weill-Marchesani syndrome |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Weill-Marchesani syndrome 1, recessive 277600 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Weill-Marchesani syndrome 1, recessive, 277600 |
Green in Structural eye diseaseR-numbers: R36 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Weill-Marchesani syndrome 1, recessive |