In humans, hemizygous loss of Tbx1 has been suggested to be a major contributor to the cardiovascular/pharyngeal defects in DiGeorge syndrome, with similar phenotypes evident in mouse mutants [50–52] and the zebrafish van gogh mutant (vgo; caused by tbx1 mutation) [53]. The gene discussed is TBX1; the disease is 22q11.2 deletion syndrome.