PKHD1 (p.T36M, p.R496X, p.L1966fs, p.D3230fs, p.A1254fs, p.I222V, p.I3177T, p.V3471G, p.Q3392X, p.I2957T) causes cysts to develop in the kidneys which interfere with their ability to filter waste products from the blood. The cysts cause the kidneys to become enlarged and can lead to kidney failure. The signs and symptoms are usually apparent at birth or in early infancy and are often lethal early in life.