TFAP2E and Neurodevelopmental delay: The individuals described here with heterozygous missense variants in the neural crest specifier TFAP2E showed a phenotypical spectrum of CNS, orofacial and maxillofacial anomalies that are associated with neural crest and neural plate border specification failures.30 31 Shared phenotypes of the seven individuals from five families comprise orofacial and maxillofacial anomalies as the most frequent phenotype (6/7), CNS anomalies (4/7) and NDD (2/5).