16p13.11 microduplication syndrome
MONDO:001683716p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.
Also known as: 16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus), dup(16)(p13.11), trisomy 16p13.11
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Disease
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Human disease
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Chromosomal disorder
(12)
Disease of genetic or genomic mechanism
(2)
Autosomal anomaly
(0)
Chromosome 16 disorder
(0)
Disease by etiologic mechanism
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Partial duplication of chromosome 16
(0)
Partial duplication of the short arm of chromosome 16
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Syndrome caused by partial chromosomal duplication
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