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).

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