Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Cleidocranial DysplasiaR-numbers: R415 Signed-off version 1.6 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Cleidocranial dysplasia 2, OMIM:620099, cleidocranial dysplasia 2, MONDO:0859307 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.48 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes CBFB-related cleidocranial dysplasia |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 7.26 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Cleidocranial dysplasia 2, OMIM:620099, cleidocranial dysplasia 2, MONDO:0859307 |