| Panel | Mode of inheritance | Details |
|---|---|---|
3 panels | ||
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Potocki-Shaffer syndrome, multiple exostoses, biparietal foramina, intellectual disability, strabismus, minor craniofacial anomalies, myopia, ophthalmologic anomalies, 601224, mental retardation, enlarged anterior fontanel, genital abnormalities in males, parietal foramina, developmental delay |
R-numbers: R100 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Potocki-Shaffer syndrome, multiple exostoses, biparietal foramina, intellectual disability, strabismus, minor craniofacial anomalies, myopia, ophthalmologic anomalies, 601224, mental retardation, enlarged anterior fontanel, genital abnormalities in males, parietal foramina, developmental delay |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 5.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Potocki-Shaffer syndrome, multiple exostoses, biparietal foramina, intellectual disability, strabismus, minor craniofacial anomalies, myopia, ophthalmologic anomalies, 601224, mental retardation, enlarged anterior fontanel, genital abnormalities in males, parietal foramina, developmental delay |