Proximal 16p11.2 microdeletion syndrome
Proximal 16p11.2 microdeletion syndrome
Definition
A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.
Also known as autism susceptibility 14A, chromosome 16p11.2 deletion syndrome, 593kb, proximal del(16)(p11.2), proximal monosomy 16p11.2 — per MONDO