Skip to main content

Table 2 Evolving clinical features of proband

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

No

Yes

Down-slanting, wavy palpebral fissures

No

Yes

Short and smooth philtrum

No

Yes

Long slender distal extremities/fingers

No

Yes

Spine abnormality

No

Yes