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16p13.11 microduplication syndrome

ORPHA:261243· ICD-10 Q92.3

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.

Prevalence
<1 / 1 000 000
Inheritance
Not applicable, Unknown
Age of onset
Infancy, Neonatal