Name of the disorder

Symptoms of the disorder

Mode of Inheritance Dominant or recessive, Sex linked or autosomal Single gene or multigene, etc

Type of Mutation Describe the level: gene, chromosomal or nondisjunction If gene or chromosome, describe the type: e.g. point mutation, translocation, etc If nondisjunction, which chromosome number is involved.

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

History of Disease Who first identified it Has anyone famous be associated with the disease? How long has the disease been known?

Incidence and Risk How common is the disorder? Are certain populations at greater risk?

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?

What prospective parents should do? Is there screening, genetic testing, pedigree analysis available?

Future of Disorder Are there new treatments being developed? How would they work? How far away are they from being used?

Citations used