Mutations in SAMD9 can result in the MIRAGE syndrome.
Gene: sterile alpha motif domain containing 9 (SAMD9)
Inheritance: autosomal dominant
(1) myelodysplasia (M)
(2) infection (I)
(3) restriction of growth (R)
(4) adrenal hypoplasia (A)
(5) genital abnormalities (G)
(6) enteropathy (E)
(2) cognitive impairment
Some patients show loss of chromosome 7 (monosomy 7).
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