Coloboma–congenital heart disease–ichthyosiform dermatitis–mental retardation–ear anomalies (CHIME) syndrome [OMIM:280000] is an AR CDG resulting from mutations in the phosphatidylinositol glycan anchor biosynthesis class L (PIGL) gene on chromosome 17p11.2. Here, PIGL is linked to congenital disorder of glycosylation.