The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly. The disease is 8q12 microduplication syndrome (Monarch Disease Ontology entry MONDO_0016458). Also known as: dup(8)(q12), trisomy 8q12.