chromosome 22q11.2 microduplication syndrome distal 22q11.2 microduplication syndrome https://github.com/monarch-initiative/mondo/issues/3492 https://www.malacards.org/card/distal_22q112_microduplication_syndrome distal dup(22)(q11.2) SCTID:764524005 MONDO:0016846 Orphanet:261337 GARD:0020780 distal trisomy 22q11.2 UMLS:C4706942 MEDGEN:1637660 Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported.