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Name of the disorder
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Symptoms of the disorder
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Mode of Inheritance Dominant or recessive, Sex linked or autosomal
Single gene or multigene, etc
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Gene location Show the specific chromosome(s) involved and gene location(s) on chromosome Describe what about the gene(s) cause(s) the problem: i.e. single wrong base pair, absence of one or more base pairs, etc
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History of Disease Who first identified it
Has anyone famous be associated with the disease? How long has the disease been known?
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Incidence and Risk How common is the disorder?
Are certain populations at greater risk?
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Current Treatment/Maintenance Status
How are people with this problem being treated today? Can the disorder be lessened in severity? Can it be managed with drug therapy or genetic therapy?
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What prospective parents should do?
Is there screening, genetic testing, pedigree analysis available?
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Future of Disorder Are there new treatments being developed?
How would they work? How far away are they from being used?
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Citations used
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