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The Angelman Syndrome

The Angelman Syndrome (AS) was described in 1965 by the paediatrician Harry Angelman. Thirty years later the clinical and genetic diagnosis consensus was established. It is noteworthy that the phenotype of the syndrome is complex and each affected child is different. Moreover, in 15% of cases with characteristic phenotype of AS the genetic origin is unknown.
In this web we describe what is known about the diagnosis of this pathology.