While all affected individuals with the initial report of TUBB3 variants had CFEOM, a subset of missense variants resulted in various combinations of additional clinical and magetic resonance imaging (MRI) findings, including additional CN dysfunction, progressive axonal motor-sensory polyneuropathy, intellectual disabilities, social impairments/autism spectrum disorder (ASD), congenital joint contractures, cyclic vomiting and cardiac arrhythmias. Here, TUBB3 is linked to congenital fibrosis of the extraocular muscles.