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 April 2024
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Proximal 16p11.2 microdeletion syndrome?
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Clinical Trials
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