label: Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis
label_lc: polycystic kidney disease, infantile severe, with tuberous sclerosis
description: "An autosomal dominant condition caused by a contiguous gene deletion involving the PKD1 and TSC2 genes, encoding polycystin-1 and tuberin respectively. It is characterized by polycystic kidneys and tuberous sclerosis."