MIRAGE syndrome is a recently discovered rare genetic disease characterized by myelodysplasia (M), infection (I), growth restriction (R), adrenal hypoplasia (A), genital phenotypes (G), and enteropathy (E), caused by a gain-of-function mutation in the SAMD9 gene on the arm of chromosome 7 (7q21.2) [1]. The gene discussed is SAMD9; the disease is MIRAGE syndrome.