Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
R-numbers: R54 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebrofaciodental syndrome |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebellofaciodental syndrome, 616202, intellectual disability |