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DIT autodom

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
Created by: kayjames