Synonyms: Proximal del(16)(p11.2) | Proximal monosomy 16p11.2
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays mild intellectual disability social impairments (autism spectrum disorders) mild variable dysmorphism and predisposition to obesity.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2026
Newly diagnosed with
Proximal 16p11.2 microdeletion syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
16p Genetic Syndrome Foundation
To provide up to date, practical and digestible information and guidance for families to promote children and individuals with 16p11.2 deletion to reach their full potential while celebrating the joys of individual variation.
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.