Congenital disorders of glycosylation (CDG) linked to mutations in CCDC115 (MIM 616828) or TMEM199 (MIM 616829) can display phenotypic similarities with WD and in fact, some patients suffering from a CDG have been described with an initial misdiagnosis of WD [70,119,120]. Here, VMA12 is linked to congenital disorder of glycosylation.