Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
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 |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | 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 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, a typical facial gestalt |