Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Component of the following Super Panels:
Signed-off version 4.13 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Congenital disorder of glycosylation, type Iy 300934 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Congenital disorder of glycosylation, type Iy, 300934, CDG syndrome type Iy, SSR4-CDG |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Congenital disorder of glycosylation, type Iy 300934 |