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Angelman syndrome is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features. Different genetic mechanisms may cause Angelman syndrome, such as deletion of the 15q11.2-q13 critical region (60-75%), paternal uniparental disomy (2-5%), imprinting defect (2-5%) and mutation in the UBE3A gene (10%).
Prevalence of Angelman syndrome is estimated to be 1/10,000 worldwide.