In comparison tcof1 mutation is characterized by craniofacial malformations, while rpl/rps mutations often produce a broader range of abnormalities, including anemia, craniofacial and growth defects [1, 3, 5, 8, 10, 14–16, 22, 23, 32, 34, 37, 43]. Here, TCOF1 is linked to anemia (phenotype).