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
GARD:21993
MONDO:0044621
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 16p12.1p12.3
tetrasomy 16p12.1-p12.3
trip(16)(p12.1p12.3)