2p15-p16.1 microdeletion syndrome is characterized by intellectual disability, microcephaly, microsomia, congenital organ defects, and facial defects etc. 2p15-p16.1 microdeletion results in the haploinsufficiency of BCL11A; thus, BCL11A is considered as a candidate gene for 2p15-p16.1 microdeletion syndrome using microarray based comparative genomic hybridization and fluorescence in situ hybridization analysis [88,89]. Here, BCL11A is linked to microcephaly.