KMT2D and microcephaly: Using WES, PVs or LPVs were detected in 10 genes previously associated with microcephaly: GNB1, GNAO1, TCF4, ASXL1, SMC1A, KMT2A, VPS13B, ACTG1, EP300, and KMT2D. Five PVs or LPVs were novel variants, and nine PVs or LPVs were de novo variants.