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16p13.11 microdeletion syndrome

MONDO:0016836

16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.

Also known as: 16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus), Del(16)(p13.11), monosomy 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 deletion of chromosome 16 (0) Partial deletion of the short arm of chromosome 16 (0) Syndrome caused by partial chromosomal deletion (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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