However, one 3-year-old Chinese boy initially presented with EVR showed facial dysmorphism and global developmental delay during follow-up and WES identified a de novo 1-bp insertion (c.1434_1435insC, Glu479ArgfsTer18) in CTNNB1 gene (OMIM *116806.0023). The gene discussed is CTNNB1; the disease is Global developmental delay.