Xq12-q13.3 duplication syndrome
MONDO:0017794Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.
Also known as: dup(X)(q12-q13.3)
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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