“…INPP5E is a widely expressed ciliary gene 8 , encoding a 72-kDa (644 amino acid) phosphatase that plays a critical role in controlling ciliary growth and stability via the phosphoinositide 3-kinase signaling pathway 9 . To date, a total of 34 pathogenic INPP5E variants have been reported, 28 of which in patients with JBTS or MORM (Mental retardation, truncal obesity, retinal dystrophy, and micropenis) syndrome (OMIM #610156) [9][10][11][12][13][14][15][16][17][18][19][20][21][22][23] . These JBTS cases include eleven patients with no signs of IRD 10,15,16,18,20,21,23 .…”