TFAP2E and Neurodevelopmental delay: Interestingly, 18 individuals with CNVs overlapping the TFAP2E locus ranging from 0.5 Mb to 16.7 Mb listed in DECIPHER show phenotypical similarities to the observed features in the individuals reported here with single nucleotide variants in TFAP2E, that is, NDD and craniofacial anomalies.