The most frequent features in the previously reported COG6-CDG patients involve growth retardation, developmental disability, microcephaly, liver and gastrointestinal disease, recurrent infections, and hypohidrosis/hyperthermia [2, 7], which align with the lethal infant phenotype of COG6-CDG (OMIM #606977) in the presented patient. This evidence concerns the gene COG6 and gastrointestinal disease.