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What are the symptoms of Xq28?

Published in Genetic Syndromes 1 min read

The symptoms of Xq28, particularly in males, include a range of cognitive, behavioral, physical, and immunological issues. Based on the provided reference, here's a breakdown:

Symptoms of Xq28

Xq28 is a rare, syndromic X-linked intellectual disability with the following key symptoms, especially prominent in males:

  • Cognitive Impairment: This includes intellectual disability of varying degrees.

  • Behavioral and Psychiatric Problems: These can manifest as a variety of issues requiring specialized care.

  • Obesity: Patients may be prone to weight gain and obesity.

  • Recurrent Infections: Increased susceptibility to infections.

  • Atopic Diseases: Increased risk of allergic conditions such as eczema, asthma, and allergic rhinitis.

  • Distinctive Facial Features: The syndrome can result in specific facial characteristics that aid in diagnosis.

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