A. Describe the cause(s) in detail. This must include 3 genetic-related concepts explaining the biological cause of the abnormality.
B. Describe (in detail) 3 major symptoms/signs that characterize the abnormality.
C. Explain the treatment option(s) available. Connect the explanation of the treatment back to the cause of the disease. (ie, why does the treatment work?)
E. Explain 3 points about prognosis (is there full “recovery”? management? is it lifelong? average lifespan? etc.)
F. Provide link(s) used for research.
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