Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Component of the following Super Panels:
Signed-off version 4.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation with defective fucosylation, 618005 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital Disorder of Glycosylation with Defective Fucosylation |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 4.134 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation with defective fucosylation, 618005, seizures |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation with defective fucosylation 1, OMIM:618005, Congenital disorder of glycosylation with defective fucosylation 1, MONDO:0020775 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation with defective fucosylation, 618005, Intellectual disability |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation with defective fucosylation, 618005 |