KIF21A L685P (2054 T > C) (also known as pL672P due to a difference in cDNA numbering): A de novo variant in a 13-year-old boy with exotropic CFEOM, asymetrical congenital facial weakness, and axonal sensory-motor peripheral neuropathy with onset prior to 11 years of age (Soliani et al., 2020). The gene discussed is KIF21A; the disease is congenital fibrosis of the extraocular muscles.