A similar phenotype of PtdIns(4)P loss and PtdIns(4,5)P2 build-up at the cilium is observed in fibroblasts from human Lowe syndrome subjects and in MEFs from the human INPP5B reconstituted Ocrl;Inpp5b co-deletion Lowe syndrome mouse model [95]. The gene discussed is INPP5B; the disease is oculocerebrorenal syndrome.