Among a group of unresolved patients diagnosed with CDG, another individual was then discovered; this patient carried SLC39A8 variants c.97G>A (p.Val33Met) and c.1004G>C (p.Ser335Thr) on the paternal allele, and c.610G>T (p.Gly204Cys) on the maternal allele (Table 1). The gene discussed is SLC39A8; the disease is congenital disorder of glycosylation.