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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 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