Families were consented for clinical studies approved by the CHU Sainte-Justine Institutional Review Board (IRB) (Montreal, Quebec, Canada). At the Autism and Developmental Medicine Institute at Geisinger, patients are offered participation in an IRB-approved protocol that allows the use and publication of clinically obtained data (including genetic test results) to be used for research purposes. For publication of the photos in Fig. 3 and fig. S4C, informed written consent was obtained specifically.

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