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ITS diagnostic criteria for tuberous sclerosis complex

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Major features
Hypomelanotic macules ≥ 3, at least 5 mm diameter)
Angiofibromas ≥ 3) or fibrous cephalic plaque
Ungual fibromas ≥ 2)
Shagreen patch
Multiple retinal hamartomas
Cortical dysplasias
Subependymal nodules
Subependymal giant cell astrocytoma
Cardiac rhabdomyoma
Lymphangioleiomyomatosis
Angiomyolipomas ≥ 2)
Minor features
"Confetti" skin lesions
Dental enamel pits > 3)
Intraoral fibromas ≥ 2)
Retinal achromic patch
Multiple renal cysts
Nonrenal hamartomas
Genetic mutations
TSC1 or TSC2 pathogenic mutations
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