Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes LADD SYNDROME 149730 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes LADD SYNDROME |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Polydactyly, Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs, LADD syndrome 149730, LADD syndrome, 149730, short radius |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes LADD syndrome 149730 |