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1. Name of disorder (including other names it may go by); background on this disorder including symptoms, how it is diagnosed, and treatments; is this disorder more prevalent in certain populations?
2. Gene information: OMIM number https://omim.org/what gene(s) are involved or believed to be involved;
3. How does the mutation cause the phenotypes or symptoms observed?
4. Any environmental factors that lead to or enhance the phenotype?
5. Is this disorder inherited? If so, how?
6. Any experimental treatments being researched to correct the genetic mutation?
7. Any other interesting facts
