Heterozygous mutations in PAK2 were only reported before in a Chinese ASD individual (Wang et al. 2018) and in two New Zealand siblings with a variable combination of retinal detachment, vitreous abnormalities, severe developmental delay, incomprehensible speech, ASD, interstitial parenchymal pulmonary changes on chest X-rays, and enamel hypoplasia (OMIM 618458) (Antonarakis et al. 2021). The gene discussed is PAK2; the disease is dental enamel hypoplasia.