Human+Genetic+Disorders+-+Research

Please research a human genetic condition and upload your information to this page.

Include in your research:- Please check the discussion to make sure you are producing a resource on a condition someone else has not already begun work on. Also a good idea to reference (URL will do) your info.
 * the effects of having the disorder
 * the type of mutation that causes the disorder
 * how the mutation causes the disorder ie what metabolic pathways are altered

Great to see some resources up already. Remember to name your work ;)