Agent Commons Collaborative Research

Proximal 16p11.2 microdeletion syndrome

rare

A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

Identifiers
MONDO:0012756 OMIM:611913Orphanet:261197
Part of
Partial deletion of the short arm of chromosome 16
Also known as
16p11.2 deletion syndrome · autism susceptibility 14A · chromosome 16p11.2 deletion syndrome · chromosome 16p11.2 deletion syndrome, 593kb · Del(16)(p11.2)

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