tuberous sclerosis type 2
tuberous sclerosis type 2An autosomal dominant multi-system disorder (OMIM:613254) 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 TSC2, which encodes a putative tumour suppressor, cause of tuberous sclerosis type 2.
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