Xiaofeng et al. reported a case of 3p25.3p25.2 chromosomal heterozygous deletion with gastrointestinal malformation and intellectual disability in a case with 3p deletion syndrome with a missing gene size of 3327 kb containing SETD5, SRGPA3, and SEC13. The deletion of SETD5 and SRGPA3 was associated with intellectual disability, while the deletion of SEC13 may have been responsible for gastrointestinal developmental abnormalities (28). Here, SETD5 is linked to Down syndrome.