tuberous sclerosis type 1
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tuberous sclerosis type 1An autosomal dominant multi-system disorder (OMIM:191100) characterised by hamartomas and developmental defects, which primarily affects the brain, kidneys, heart and skin.
Range from benign hypopigmented skin macules, to profound mental retardation with intractable seizures and premature death due to disease-associated causes.
Defects of TSC1, which encodes a putative tumour suppressor, cause tuberous sclerosis type 1.