22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. The disease is 22q11.2 deletion syndrome (Monarch Disease Ontology id MONDO_0018923). Also known as: 22q11DS, Cayler cardiofacial syndrome, Chromosome 22q11.2 Deletion Syndrome, Sedlackova syndrome, Shprintzen syndrome, Takao syndrome, catch 22, conotruncal anomaly face syndrome.