From: Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication
Evolving features
4y/o
10y/o
Weight
<3rd %ile
5–10th %ile
Oval face
No
Yes
Truncal obesity
Down-slanting, wavy palpebral fissures
Short and smooth philtrum
Long slender distal extremities/fingers
Spine abnormality