However, it is now well established that heterozygous gain-of-function variants in SAMD9 can be identified in children with a complex multisystem condition named MIRAGE syndrome (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital (gonadal) phenotypes, and enteropathy) (OMIM: 617053) (9–11). Here, SAMD9 is linked to Myelodysplasia.