Mutations in SAMD9 can result in the MIRAGE syndrome.
Chromosome: 7q21.2
Gene: sterile alpha motif domain containing 9 (SAMD9)
Inheritance: autosomal dominant
Key features:
(1) myelodysplasia (M)
(2) infection (I)
(3) restriction of growth (R)
(4) adrenal hypoplasia (A)
(5) genital abnormalities (G)
(6) enteropathy (E)
Additional features:
(1) cytopenias
(2) cognitive impairment
Some patients show loss of chromosome 7 (monosomy 7).
