Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes SYNDROMIC INTELLECTUAL DISABILITY 612100 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Coffin-Siris syndrome 11, OMIM:618779 |
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 Generalized hypotonia, Feeding difficulties, Global developmental delay, Intellectual disability, Abnormality of the hand, Abnormality of the foot, Coffin-Siris syndrome 11, 618779 |