Figure 1. Common phenotypes in carriers of 16p11.2 CNVs.
Both 16p11.2 deletions and duplications predispose individuals to ASD, ID, epilepsy/seizures, and DF/CA with high penetrance, in addition to several other common phenotypes. Numbers inside parentheses indicate ranges of reported penetrance within cohorts of 16p11.2 CNV patients. Inset: Genes in the human 16p11.2 region. ASD: autism spectrum disorder; ID: intellectual disability; DF/CA: dysmorphic features/congenital anomalies.
