Heterozygous microdeletions of this region give rise to Velocardiofacial (VCFS)/ DiGeorge (DGS) syndromes [4, 5], a group of developmental disorders associated with loss of 30 to 40 genes in addition to SLC25A1. Patients with 22q11.2 deletion syndrome present with heart malformations, cleft palate, immune deficiency, thymic aplasia, short stature, and abnormal facial features, particularly microcephaly, abnormal ears and eyes, and underdeveloped chin. Here, SLC25A1 is linked to 22q11.2 deletion syndrome.