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Chromosome 16p12.2-p11.2 deletion syndrome

MONDO:0013320

16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.

Also known as: 16p11.2-p12.2 microdeletion syndrome, 16p11.2p12.2 microdeletion syndrome, Del(16)(p11.2p12.2), chromosome 16p12.2-p11.2 deletion syndrome, isolated cases, monosomy 16p11.2-p12.2, monosomy 16p11.2p12.2, chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (717) Human disease (15) Chromosomal disorder (13) 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)
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    This international online study collects medical, behavioral, and developmental information from people with rare genetic changes that are linked to autism and other neurodevelopmental disorders. By partnering with families, researchers aim to build a detailed database to improve…

    Sponsor: Simons Searchlight • Aim: Knowledge-focused

    Last updated Jul 25, 2026 00:00 UTC

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