Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Syndromic Intellectual Disability and Developmental Delay |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.9 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Coffin-Siris syndrome 8, 618362, Global developmental delay, Intellectual disability, neurodevelopmental delay and growth retardation, prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Global developmental delay, Intellectual disability, neurodevelopmental delay and growth retardation, prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features |