Interestingly, mosaic activating variants in FGFR1 have been reported to cause encephalocraniocutaneous lipomatosis (ECCL; MIM 613001), a neurocutaneous condition characterized by ocular anomalies, skin lesions, and central nervous system anomalies (Moog 2009; Bennett et al. 2016). The gene discussed is FGFR1; the disease is encephalocraniocutaneous lipomatosis.