16p13.11 microduplication syndrome
16p13.11 microduplication syndrome
Definition
16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.
Also known as 16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus), dup(16)(p13.11), trisomy 16p13.11 — per MONDO