Department of Pediatrics Division of Genetics and Metabolism

Diagnostic Criteria

This section summarizes the main clinical features that are seen in the Angelman syndrome. There are no precise features that allow the physician to definitively make the diagnosis but there are characteristic features that occur with high probability in the syndrome. Table 1 summarizes the developmental history and table 2 summarizes the main clinical features. These tables are part of a consensus paper on AS that was published in 2006.

Angelman syndrome: developmental history

Angelman syndrome: clinical diagnostic criteria