What is the main clinical feature of individuals with Angelman Syndrome?

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Angelman Syndrome is characterized primarily by intellectual disability and movement disorders. Individuals with this condition often exhibit significant developmental delay and can have severe cognitive impairment. Additionally, they display movement and balance difficulties, which can manifest as ataxia. These movement disorders often lead to a unique gait and other motor challenges.

While hypotonia, severe obesity, and facial dysmorphisms may be associated with Angelman Syndrome, they are not the defining clinical features. Hypotonia is indeed a common finding, particularly in the early years of life, but it does not encompass the full spectrum of symptoms seen in the syndrome. Severe obesity is not a typical feature; rather, individuals may have feeding difficulties early on. Facial dysmorphisms can be present, but they are not as prominent or specific as the cognitive and movement challenges that are most characteristic of the syndrome. Therefore, the combination of intellectual disability and movement disorders is what most distinctly defines Angelman Syndrome.

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