Using a combination of whole-exome sequencing and targeted capture, we have identified a severe multisystem disorder caused by heterozygous SAMD9 mutations in eight 46,XY patients with marked IUGR, severe testicular dysfunction, congenital adrenal insufficiency, thrombocytopenia/anemia, persistent diarrhea, and severe infections resulting in a life-threatening course. This evidence concerns the gene SAMD9 and Thrombocytopenia.