disease arises from structure disease arises from alteration in structure 16p12.1-p12.3 (Human) syndromic intellectual disability syndrome caused by partial chromosomal duplication multiple congenital anomalies/dysmorphic syndrome-intellectual disability partial duplication of the short arm of chromosome 16 16p12.1p12.3 triplication syndrome https://www.malacards.org/card/16p121p123_triplication_syndrome MONDO:0044621 tetrasomy 16p12.1p12.3 MEDGEN:1814451 UMLS:C5680097 GARD:0021993 16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers. Orphanet:485405 tetrasomy 16p12.1-p12.3 trip(16)(p12.1p12.3)