In this study we provide the second report and fifth patient with pathogenic mutations in ASXL3. Our case provides additional evidence that, indeed, truncating frameshift mutations in the ASXL3 gene are the cause of a newly recognized distinct disorder characterized by global developmental delay and craniofacial anomalies that shares significant clinical features with Bohring-Opitz syndrome. Here, ASXL3 is linked to Bohring-Opitz syndrome.