Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Carey-Fineman-Ziter syndrome, OMIM:254940, Carey-Fineman-Ziter syndrome, MONDO:0009700 |
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Carey-Fineman-Ziter syndrome, OMIM:254940, Carey-Fineman-Ziter syndrome, MONDO:0009700 |
Green in Congenital myopathyComponent of the following Super Panels:
R-numbers: R81 Signed-off version 4.38 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Carey-Fineman-Ziter syndrome, OMIM:254940 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Carey-Fineman-Ziter syndrome, OMIM:254940, Carey-Fineman-Ziter syndrome, MONDO:0009700 |