Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis
tuberous sclerosis 1
tuberous sclerosis 2
A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13. (DO)