MIRAGE is the acronym of myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy. The MIRAGE syndrome is an autosomal dominant disorder caused by SAMD9 mutations.
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Narumi S et al. (2016) SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. |