Mutations in human OCRL cause Lowe syndrome, a multisystemic disorder with characteristics of a ciliopathy, and cilia from Lowe syndrome patient fibroblasts contain high levels of PI(4,5)P2 and low levels of PI(4)P similarly to Inpp5e mutant cilia (Coon et al., 2012; Prosseda et al., 2017). This evidence concerns the gene INPP5E and oculocerebrorenal syndrome.