Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in Cleidocranial DysplasiaR-numbers: R415 Signed-off version 1.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes CLEIDOCRANIAL DYSPLASIA 119600 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes CLEIDOCRANIAL DYSPLASIA |
R-numbers: R100 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Craniosynostosis, 156510 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510, Cleidocranial dysplasia, forme fruste, with brachydactyly 119600, Cleidocranial dysplasia, forme fruste, dental anomalies only 119600, Cleidocranial dysplasia 119600 |