The OFD1 gene (also known as CXORF5) has been implicated in several developmental syndromes, including a male-lethal X-linked dominant condition, Oral-Facial-Digital type 1 (OFD1) syndrome [1], X-linked recessive Simpson-Golabi-Behmel syndrome type 2 (SGBS2) [2] and Joubert syndrome and related disorders (JSRDs) [3]. This evidence concerns the gene OFD1 and Simpson-Golabi-Behmel syndrome type 2.