Cuinat et al. first established SRRM2 as a gene responsible for a rare neurodevelopmental disease in 22 subjects (14 males, mean age 11 years, range 4–28 years) presenting with developmental delay, facial dysmorphism (20/22), mild IDD (16/20), ASD (9/22), hypotonia (9/22), obesity (7/22), and ADHD (6/22) [3]. This evidence concerns the gene SRRM2 and Global developmental delay.