Activating mutations in SAMD9 and SAMD9L genes have initially been described as being associated with a clinical spectrum of disorders, including the MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy) syndrome, ataxia-pancytopenia syndrome, and myelodysplasia and leukemia syndrome with monosomy 7 syndrome [29]. This evidence concerns the gene SAMD9 and Myelodysplasia.