These may be already present (e.g. cardiac defects in patients with GATA6 mutations, microencephaly in patients with IER3IP1 mutations and gall bladder and gut atresia in patients with RFX6 mutations), anticipated (e.g. exocrine pancreas deficiency in patients with mutations in GATA4, GATA6 or PDX1, and remission of transient diabetes in patients with 6q24 methylation abnormalities) or they may develop later (e.g. hepatic failure and bone abnormalities in Wolcott–Rallison syndrome or other autoimmune conditions with IPEX syndrome) [7]. Here, GATA6 is linked to microcephaly.