16p12.1p12.3 triplication syndrome
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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0016949
partial duplication of the short arm of chromosome 16
is_a
tetrasomy 16p12.1-p12.3
exact
tetrasomy 16p12.1p12.3
exact
trip(16)(p12.1p12.3)
exact