Together, our data and a literature review indicate that damaging variants in POGZ result in a broad range of features distinguished by global DD, ID, neurobehavioral abnormalities (most often ASD), short stature, hypotonia, strabismus, characteristic facial features, including brachycephaly, long and flat malar region, broad nasal tip, short philtrum, thin vermillion border, downturned corners of the mouth, and pointed chin, and variable hearing loss. The gene discussed is POGZ; the disease is atrial septal defect.