Condition: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl


rs387906959 in COG6 gene and CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl PMID 20605848 2010 Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.