Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 8.6 | 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 6.5 | 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 5.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Carey-Fineman-Ziter syndrome, OMIM:254940 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.80 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Carey-Fineman-Ziter syndrome, OMIM:254940, Carey-Fineman-Ziter syndrome, MONDO:0009700 |