All patients had autism, co-morbid in each case with mild to severe intellectual disability. Dysmorphic features as described in the first cohort of 10 patients included a prominent forehead, high hairline, eversion or notch of the eyelid, broad nasal bridge, and thin upper lip [Helsmoortel et al., 2014b]. In the meantime an 11th patient has been identified. His phenotype shares many of the characteristics of the first 10 patients (Tables I and II).
