This region contains four protein-coding genes: NIPA1, NIPA2, CYFIP1 and TUBGCP5. 15q11.2 microdeletion between BP1 and BP2 has been previously associated with developmental delay, mental retardation, epilepsy, autism, schizophrenia and congenital heart defects. Here, IGFBP2 is linked to congenital heart disease.