In fact, in an original case series of myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy syndrome, which was initially recognized as a disease caused by SAMD9 gain-of-function mutations, two of 11 patients developed myelodysplastic syndrome (MDS) with monosomy 7 (102). The gene discussed is SAMD9; the disease is myelodysplastic syndrome.