Proximal 16p11.2 microdeletion syndrome
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 May 2024
Newly diagnosed with
Proximal 16p11.2 microdeletion syndrome?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.