TBX1 is stipulated to be the primary gene responsible for the phenotypic features associated with 22q11.2del [34, 41], as evidenced by TBX1 haploinsufficiency correlating with five major phenotypes: abnormal facies, cardiac (conotruncal) defects, thymic hypoplasia, velopharyngeal insufficiency with submucosal cleft palate, and hypoparathyroidism [5]. The gene discussed is TBX1; the disease is hypoparathyroidism.