Germline SAMD9 and SAMD9L mutations are associated with SAMD9/SAMD9L syndrome with a clinical spectrum of disorders including MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital problems, and enteropathy) syndrome [99], ataxia–pancytopenia syndrome [100], and myelodysplasia and leukemia syndrome with monosomy 7 [101]. This evidence concerns the gene SAMD9L and Myelodysplasia.