PKHD1 and brain aneurysm: Brain aneurysm was observed in eight patients (16%), and the causative genes were PKD1 (missense (n = 2), nonsense (n = 1)), PKD2 (missense (n = 1), splice-site (n = 1)), ZNF423 (missense), GLIS2 (missense) or PKHD1 (missense) or WDR19 (splice-site), and CEP164 (missense).