Xq27.3q28 duplication syndrome
MONDO:0010467Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.
Also known as: Xq27.3-q28 microduplication syndrome, chromosome xq27.3-q28 duplication syndrome, X-linked recessive, dup(X)(q27.3q28), trisomy Xq27.3-q28, trisomy Xq27.3q28, chromosome Xq27.3-q28 DUPLICATION syndrome
6 clinical trials for this condition and its sub-types.
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Disease
(618)
Human disease
(14)
Chromosomal disorder
(12)
Gonosome anomaly
(5)
Disease of genetic or genomic mechanism
(2)
Chromosome X disorder
(0)
Disease by etiologic mechanism
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Partial duplication of chromosome X
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Partial duplication of the long arm of chromosome X
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Syndrome caused by partial chromosomal duplication
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