proximal 16p11.2 microdeletion syndrome
A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.
MONDO:0016894
partial deletion of the short arm of chromosome 16
is_a
16p11.2 deletion syndrome
related
Del(16)(p11.2)
related
autism susceptibility 14A
exact
chromosome 16p11.2 deletion syndrome
related
chromosome 16p11.2 deletion syndrome, 593kb
exact
microdeletion 16p11.2
related
monosomy 16p11.2
related
proximal del(16)(p11.2)
exact
proximal monosomy 16p11.2
exact