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skos:definition |
MSH: Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.,CSP: autosomal dominant disease characterized principally by the presences of hamartomas of the brain, retina, and visera; clinical manifestations include mental retardation, seizures, and adenoma sebaceum of the face.,MEDLINEPLUS: <p>Tuberous sclerosis is a rare genetic disease that causes noncancerous tumors to grow in the brain and other organs. Symptoms vary depending on the location of the tumors. Common symptoms include </p><ul><li> Skin problems, such as light patches and thickened skin</li><li> Seizures</li><
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