Affected members of family F4 had bilateral blepharoptosis, severe restrictive ophthalmoplegia, facial weakness, anosmia, and intellectual disability; the mother (F4:I-2) harbored a de novo heterozygous TUBB3 mutation (c.1228G > A, p.(Glu410Lys)), which then segregated with the phenotype in all three of her children [15]. Here, TUBB3 is linked to Kallmann syndrome.