What is a common symptom of Angelman syndrome?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

Severe intellectual disability is a hallmark feature of Angelman syndrome, which arises from a genetic mutation typically affecting the maternal allele of the UBE3A gene on chromosome 15. Individuals with Angelman syndrome often exhibit significant developmental delays, lack of speech, and intellectual disabilities, ranging from moderate to severe.

In addition to intellectual disability, other characteristic features of Angelman syndrome may include ataxia, seizures, and a happy demeanor, including frequent laughter and smiling. These symptoms relate directly to the malfunctioning of neural processes due to the genetic anomaly.

While obesity, hypogonadism, and webbed neck may occur in other genetic disorders, they are not associated with Angelman syndrome. The focus on intellectual disability reflects the primary concern for individuals affected by this condition and emphasizes the developmental challenges they face.

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