Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Prominent metopic ridge, Ptosis, Ptosis, Prominent metopic ridge, Craniosynostosis, Global developmental delay, Intellectual disability, Autistic behavior, Intellectual disability, Global developmental delay, Craniosynostosis, Autistic behavior |
R-numbers: R100 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Weiss-Kruszka syndrome, OMIM:618619, weiss-kruszka syndrome, MONDO:0032836 |