TUBB2B and congenital fibrosis of the extraocular muscles: In conclusion, our findings expand the mutational spectrum of the TUBB2B-related CDCBM7 combined with CFEOM, involving a different functional domain of the protein, providing clinical evidence that the p.Ile202Thr TUBB2B pathogenic variant can cause CDCBM7 with or without CFEOM as an associated feature.