COG7-congenital disorder of glycosylation
COG7-congenital disorder of glycosylation
Definition
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.
Also known as carbohydrate deficient glycoprotein syndrome type IIe, CDG syndrome type IIe, CDG-IIe, CDG2E, COG7-CDG, COG7-congenital disorder of glycosylation, congenital disorder of glycosylation type 2e, congenital disorder of glycosylation type IIe — per MONDO