Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Developmental Delay Congenital Anomalies and Dysmorphic Features |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Developmental Delay, Congenital Anomalies, and Dysmorphic Features, Cardiac, facial, and digital anomalies with developmental delay, 618164 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Cardiac, facial, and digital anomalies with developmental delay, 618164, Global developmental delay, Abnormal heart morphology, Abnormality of digit, Abnormality of limbs |
R-numbers: R100 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes craniosynostosis |