NOTCH2NLB and NBPF14 map to the 1q21.1 genomic region, which is associated with the 1q21.1 distal duplication/deletion syndrome, a neurodevelopmental disorder linked to various neurological symptoms including autism spectrum disorders, schizophrenia, microcephaly, and macrocephaly (67). Here, NOTCH2NLB is linked to microcephaly.