Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type 2V, OMIM:619493 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes EDEM3-related congenital disorder of glycosylation, OMIM:619493 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type 2V, OMIM:619493 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type 2V, OMIM:619493 |