Later, LoF variants in OFD1 were determined as a genetic cause of several phenotypically variable and overlapping X-linked recessive conditions with multiorgan involvements, namely, Simpson-Golabi-Behmel syndrome type 2 (MIM # 300209), Jubert syndrome type 10 (MIM #300,04), isolated retinitis pigmentosa (MIM # 300424) [53, 75–79]. Here, OFD1 is linked to Simpson-Golabi-Behmel syndrome.