Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in Childhood solid tumoursR-numbers: R359 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mulibrey nanism 253250, 253250 |
Green in CleftingComponent of the following Super Panels:
Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MULIBREY NANISM |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MULIBREY NANISM 213300 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MULIBREY NANISM |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 5.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mulibrey nanism (Other peroxisomal disorders), Mulibrey nanism |
Green in Monogenic short statureR-numbers: R453 Signed-off version 1.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mulibrey nanism, OMIM:253250 |