A TSR2 missense mutation affecting the highly conserved predicted WGG domain (of unknown function) was reported to be associated with Diamond-Blackfan anemia with mandibulofacial dysostosis (Treacher-Collins syndrome)–a congenital anomaly involving absent external auditory canals and abnormal middle ears, micrognathia, unilateral cryptorchidism and a submucous cleft palate but no known hair phenotype [32]. This evidence concerns the gene TSR2 and Blackfan-Diamond anemia.