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Xq27.3q28 duplication syndrome

rare

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

Identifiers
MONDO:0010467 OMIM:300869Orphanet:261483
Part of
Partial duplication of the long arm of chromosome X
Also known as
chromosome xq27.3-q28 duplication syndrome, X-linked recessive · dup(X)(q27.3q28) · trisomy Xq27.3-q28 · trisomy Xq27.3q28 · Xq27.3-q28 microduplication syndrome

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