Pagnamenta et al. identified six unrelated patients (3 males and 3 females, age range 5–16 years) from the 100 K Genomes Project with loss-of-function variants in SRRM2 associated with IDD and facial dysmorphism, as well as ADHD (5/6), ASD (4/6), hypotonia (4/6), and obesity (2/6) [4]. This evidence concerns the gene SRRM2 and intervertebral disk degenerative disorder.