Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes SMALL PATELLA SYNDROME 147891 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891 |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891 |
Green in Pulmonary arterial hypertensionR-numbers: R188 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.16 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891 |