Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pyle disease, 265900, PYL, Metaphyseal dysplasia |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.16 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PYL, Metaphyseal dysplasia, Pyle disease 265900 |