POGZ and microcephaly: The identification of a distinct syndrome has recently emerged: in 2015, Ye et al. described seven patients with rare loss of function variants in POGZ, sharing clinical features, such as developmental delay (DD), microcephaly, dysmorphisms, hypotonia, enlarged and/or adducted thumb and syndactyly, brain MRI abnormalities, recurrent vomiting, and other less frequent features [1].