CHD4 is sensitive to LoF variants o/e = 0.09 (90% CI 0.06–0.16) and is associated with clinically highly variable, multisystemic Sifrim–Hitz–Weiss syndrome (SIHIWES; Table S4), also known as CHD4-NDD [17,19]. The gene discussed is CHD4; the disease is Neurodevelopmental delay.