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16p13.11 microduplication syndrome

MONDO:0016837

16p13.11 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

2 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Chromosome 16 disorder (0) Disease by etiologic mechanism (0) Partial duplication of chromosome 16 (0) Partial duplication of the short arm of chromosome 16 (0) Syndrome caused by partial chromosomal duplication (0)
Not yet finished but already full! 1 Completed 1
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  • Could a simple questionnaire unlock the secrets of Kids' eating disorders?

    Knowledge-focused Completed

    This study tested a new parent questionnaire called ORALQUEST to assess feeding and eating disorders in children aged 9 months to 6 years. Researchers included 338 children with chronic conditions like heart defects or autism, as well as those with picky eating. The goal was to s…

    Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused

    Last updated Jun 27, 2026 08:04 UTC

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