Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in HydrocephalusR-numbers: R86 Signed-off version 2.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Osteopetrosis, autosomal recessive 8 |
Green in OsteopetrosisR-numbers: R104.4 Signed-off version 1.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Osteopetrosis, autosomal recessive 8 615085 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Osteopetrosis, autosomal recessive 8 615085 |