Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling - PubMed (original) (raw)

Figure 2

Facial Profiles of Females with De Novo DDX3X Mutations Facial features of 30 of 38 females with a de novo variant in DDX3X. Common facial features include a long and/or hypotonic face (e.g., individuals 2, 4, 5, 12, 22, 32), a high and/or broad forehead (e.g., individuals 1, 7, 9, 23, 24, 26), a wide nasal bridge and/or bulbous nasal tip (e.g., individuals 11, 13, 15, 16), narrow alae nasi and/or anteverted nostrils (e.g., individuals 2, 8, 9, 12, 14, 18, 24, 27, 32, 35), and hypertelorism (e.g., individuals 5, 7, 8, 20, 27). Informed consent was obtained for all 30 individuals shown. The individual numbers correspond to the numbers mentioned in Tables 1 and S1.