Recessive coding mutations in PTF1A cause pancreatic agenesis with cerebellar agenesis and neurological sequel (Al‐Shammari, Al‐Husain, Al‐Kharfy, & Alkuraya, 2011; Sellick et al., 2004; Tutak et al., 2009). The gene discussed is PTF1A; the disease is pancreatic agenesis.