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

1 clinical trial for this condition and its sub-types, 1 tagged with 16p13.11 microdeletion syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Partial deletion of the short arm of chromosome 16 (1)

Including sub-types (1) Tagged with 16p13.11 microdeletion syndrome (1)

Trials to join now! 1

Can mapping rare genetic variants unlock better care for autism-related disorders?

Knowledge-focused Recruiting now

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

16p13.11 microdeletion syndrome

Where it sits in the disease tree

Can mapping rare genetic variants unlock better care for autism-related disorders?