Furthermore, large scale studies on gene enriched for de novo variants in NDD have failed to highlight this gene with any meaningful significance (Kaplanis et al. 2020; Satterstrom et al. 2020) and several other studies did not identify a significant burden for CNTNAP2 rare variants in patients with ASD or schizophrenia comparing to controls (Murdoch et al. 2015; Toma et al. 2018; Zhang et al. 2019), suggesting that CNTNAP2 is not a a primary risk gene for psychiatric disorders. The gene discussed is CNTNAP2; the disease is Neurodevelopmental delay.