Category: Genetic Disorders / Imprinting Disorders
Angelman Syndrome is a neurodevelopmental disorder caused by the loss of function of the UBE3A gene on chromosome 15, typically inherited from the mother, characterized by severe developmental delay, intellectual disability, speech impairment, ataxia, seizures, and a happy, excitable demeanor.
Estimated at 1 in 12,000 to 1 in 20,000 live births worldwide (Source: Angelman Syndrome Foundation).
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