Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes POSTAXIAL ACROFACIAL DYSOSTOSIS, POADS = MILLER |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes POSTAXIAL ACROFACIAL DYSOSTOSIS 263750 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes POSTAXIAL ACROFACIAL DYSOSTOSIS |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Miller syndrome 263750 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Miller syndrome (postaxial acrofacial dysostosis) 263750 |