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DIT autodom
| Question | Answer |
|---|---|
| a/w floppy mitral valve, dissecting aortic aneurysm, berry aneurysm | marfans |
| a/w mitral valve prolapse, liver disease, berry aneurysms | ADPKD |
| neural tumors and pigmented iris hamartomas | NF I |
| v. strong a/w colon cancer | FAP |
| MI before age 20 | familial hypercholesterolemia |
| hemangioblastomas of retina/cerebellum/medulla | VHL |
| increased MCHC, hemolytic anemia | hereditary spherocytosis |
| bilateral acoustic neuromas | NF II |
| facial lesions, seizure d/o, cancer risk | tuberous sclerosis |
| caudate atrophy, dementia | Huntingtons |
| cystic medial necrosis of the aorta | marfans |
| defect of FGF receptor 3 | achondroplasia |