Patients with pathogenic variants located within SUZ12 but without NF1 microdeletions exhibit overgrowth, facial dysmorphic features, musculoskeletal abnormalities and developmental delay/intellectual disability (Imagawa et al. 2018; Cyrus et al. 2019a, b; Choufani et al. 2020). The gene discussed is NF1; the disease is Global developmental delay.