Catalog

16p13.11 duplication

No MMS code

Link to WHO Definition

16p13.11 duplication – http://id.who.int/icd/entity/1377848898

16p13.11 microduplication syndrome is achromosomal anomaly associated with variable clinical features including behavioural abnormalities, developmental delay, congenital heart defects and skeletal anomalies. Behavioural abnormalities include attention deficit/hyperactivity disorder, aggression and disruptive temperament, and autistic spectrum disorders. Skeletal manifestations include hypermobility, craniosynostosis and polydactyly.