Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
R-numbers: R31 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817 |
Green in Growth failure in early childhoodR-numbers: R147 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, 618571, Hypotonia, Global developmental delay, Cataract, Abnormality of the skeletal system |