In addition, some patients with NUS1 variants exhibit broader neurodevelopmental features such as early developmental delay and hypotonia, autism spectrum disorder, and attention-deficit hyperactivity disorder, suggesting that NUS1-related disease may, in certain cases, fall within a wider and more complex neurodevelopmental spectrum (Yu et al., 2021; Brooker et al., 2025; Landais et al., 2025). The gene discussed is NUS1; the disease is Global developmental delay.