DDOST

dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit
OMIM: 602202
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR 614507
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CDG1R