Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SPRED2-related Noonan syndrome |
Green in Growth failure in early childhoodR-numbers: R147 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, a typical facial gestalt |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, a typical facial gestalt |
Component of the following Super Panels:
R-numbers: R135 Signed-off version 3.44 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, a typical facial gestalt |