TCOF1 and Down syndrome: For example, RMRP (snoRNA Component Of Mitochondrial RNA Processing Endoribonuclease) and cartilage hair hypoplasia [1], Dyskerin and Dyskeratosis Congenita [2], TCOF1 (Treacle Ribosome Biogenesis Factor 1) and Treacher-Collins syndrome [3], SBDS (Shwachman-Bodian-Diamond syndrome protein) and Shwachman-Diamond syndrome [4] or components of the mature ribosome RPS14 (Ribosomal Protein S14) and 5q syndrome [5] and RPS19 and Diamond Blackfan Anemia [6].