ZNF148 and microcephaly: Based on the de novo ZNF148 gene mutation rate in our patients, the nature of these mutations (i.e. de novo and truncating), the location of the observed mutations in the last exon, and the patients’ overlapping clinical phenotypes, we provide evidence that de novo truncating ZNF148 mutations cause a syndrome characterized by ID, short stature, aberrant head size (from microcephaly to mild macrocephaly), feeding problems, variable facial characteristics including telecanthus/wide nasal bridge, low columella and pointed chin, cardiac and renal malformations, and talipes.