Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Component of the following Super Panels:
Signed-off version 4.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type IIp OMIM:616829, TMEM199-CDG MONDO:0014790 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Disorder of Golgi homeostasis |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type IIp 616829 |