Most recently, two groups had simultaneously described and characterized a new autosomal dominant disorder manifesting with intellectual disability, ptosis, and/or blepharophimosis and additional features, in 22 individuals, caused by deleterious mutations in BRPF1 (Li, Gui, & Kwan, 2012; Mattioli et al., 2017). Here, BRPF1 is linked to Blepharophimosis.