In line with the pleiotropic role of Myrf, ten Myrf genetic alleles (seven missense mutations, one nonsense mutation, one frameshift mutation, and one splice donor site mutation) have been implicated in the genetic risk of congenital heart disease, congenital diaphragmatic hernia, and encephalopathy with reversible myelin vacuolization11–14. The gene discussed is MYRF; the disease is Encephalopathy.