USP9X and Blepharophimosis: Facial dysmorphisms were prevalent in almost all individuals, and was in close alignment with previously reported individuals with USP9X-female syndrome, with common features including deep-set eyes, telecanthus, blepharophimosis, broad nasal tip with wide alae and short collumnella, low set and dysplastic ears, small mouth and micrognathia (Fig. 4a, c, Supplementary Fig. 2 and ref. 10).