et al., 2012a]. The probability of detecting eight or more de novo truncating events in ADNP within our cohort by chance was estimated to be P = 2.65e-18 (binomial test) under a de novo rate of 1.2 non-synonymous coding variants per individual. To further delineate the clinical characteristics of this novel disorder, an online portal was set up to collect phenotypic information of additional patients in a collaborative effort (Fig. 1). One additional patient with a de novo c.118C > T (p.Q40*) mutation was already submitted to the system.
