Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FUHRMANN SYNDROME 228930, LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME 276820 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FUHRMANN SYNDROME, LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polydactyly, Ulna and fibula, absence of, with severe limb deficiency 276820, absence of a radius, Fuhrmann syndrome, 228930, Fuhrmann syndrome 228930, Ulna and fibula, absence of, with severe limb deficiency, 276820, Short, bowed radii |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ulna and fibula, absence of, with severe limb deficiency 276820, Fuhrmann syndrome 228930 |