Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes SYNDROMIC INTELLECTUAL DISABILITY 612100 |
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 Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914, neurodevelopmental, jaw, eye, and digital syndrome, MONDO:003005 |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 5.4 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914, neurodevelopmental, jaw, eye, and digital syndrome, MONDO:0030057 |
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 Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914, neurodevelopmental, jaw, eye, and digital syndrome, MONDO:0030057 |