SAMD9 and MIRAGE syndrome: MIRAGE syndrome is characterized by myelodysplasia, infections, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy, and is caused by a heterozygous gain of function variant in the growth repressor sterile alpha domain containing 9 gene (SAMD9); although usually diagnosed at birth, in some MIRAGE syndrome patients PAI onset occurred in early infancy [66].