NDE1 and microcephaly: As his condition appeared very different from other patients with deletion 16p13.11, we performed whole exome sequencing (WES) to search for other genetic variants to explain his severe phenotype and identified a nonsense mutation in the non-deleted homolog of NDE1. We next performed quantitative PCR and sequencing of NDE1 in another nine patients with severe microcephaly and an FBD-like phenotype, and found a second unrelated girl with a compound heterozygous deletion 16p13.11 and NDE1 intragenic mutation.