An extensive literature review revealed two additional subjects carrying disease-causing TUBB2B variants and exhibiting CDCBM7, who could retrospectively be considered affected with syndromic CFEOM: the first subject was heterozygous for the p.Gly140Ala substitution and presented with right-sided ptosis, exotropia and ophthalmoplegia; the second subject carried the p.Glu421Lys change and presented with ptosis [52,53]. Here, TUBB2B is linked to ophthalmoplegia.