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Describe the common clinical signs and symptoms (manifestations) patients present with?
What age groups are affected, males and females equally or more common in one sex over another?
Provide a summary of the pathophysiology/pathogenesis of your disorder/disease, i.e. you need to explain,
- what the underlying abnormality/defect is and how that leads to disease
Is there a pathognomonic genetic mutation associated with this disease/disorder or are there are number of common or non-specific abnormalities present? Provide a summary of the mutation(s) and what effect it has on the cell (and how it contributes to disease)
