In conjunction with IBMF, MIRAGE syndrome patients show an increased risk of myelodysplastic syndrome (MDS) associated with microdeletions in chromosome 7 (monosomy 7) [11], indeed 17% of pediatric patients with MDS have mutations in SAMD9 and its paralogue SAMD9L [17]. Here, SAMD9 is linked to myelodysplastic syndrome.