COG7-CDG is a congenital disorder of glycosylation characterized by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex. The disease is MONDO_0012118 (COG7-congenital disorder of glycosylation). Also known as: CDG syndrome type IIe, CDG-IIe, CDG2E, COG7-CDG, carbohydrate deficient glycoprotein syndrome type IIe, congenital disorder of glycosylation type 2e, congenital disorder of glycosylation type IIe.