Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE 250220 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spondylometaphyseal dysplasia, Sedaghatian type, OMIM:250220 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.16 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spondylometaphyseal dysplasia, Sedaghatian type 250220 |