SRRM2 and Neurodevelopmental delay: We subsequently collected blood samples from the patient and the patient’s mother, two brothers, and daughter and verified the mutation by sanger sequencing, which confirmed that the variant (uc002crk.3; c.1415C>G; p.Ser472*) in SRRM2 gene is inherited from the mother and is the major cause of NDD in this family (Figure 2).