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Table 2 Evolving clinical features of proband

From: Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication

Evolving features4y/o10y/o
Weight<3rd %ile5–10th %ile
Oval faceNoYes
Truncal obesityNoYes
Down-slanting, wavy palpebral fissuresNoYes
Short and smooth philtrumNoYes
Long slender distal extremities/fingersNoYes
Spine abnormalityNoYes