Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

"data s1.; data s2. all data are available in supplementary data and supplementary table s1"

"CONFLICT OF INTEREST STATEMENT No competing interests to declare."

"Funding for this study was provided, in part, by the London Health Sciences Molecular Diagnostics Innovation and Development Fund and Genome Canada Genomic Applications Partnership Program Grant (Beyond Genomics: Assessing the Improvement in Diagnosis of Rare Diseases using Clinical Epigenomics in Canada, EpiSign‐CAN) awarded to B.S. This study was also supported by the CHU de Dijon Bourgogne and by a grant from the French Ministry of Health (DIS‐SEQ ‐ Evaluation médico‐économique des différentes stratégies de technologies de séquençage par haut débit dans le diagnostic des patients atteints de déficience intellectuelle, Clinical Trial NCT03287206). Another grant support is NU22‐07‐00165 from the Ministry of Health of the Czech Republic. This work was generated within the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN‐ITHACA). We deeply thank the families and their associations for their participation in this work, especially Hélène Frenkiel and Delphine Martin from Xtraordinaire. We thank the European Reference Network ITHACA Congenital Malformations and Rare Intellectual Disability (https://ern‐ithaca.eu) and the Anomalies du Développement Déficience Intellectuelle de causes Rares network (http://anddi‐rares.org) for the dissemination of the partnership proposal. We thank Ute Moog for providing a DNA sample for the methylation study. Boris Chaumette received a grant from the Fondation Bettencourt Schueller (CCA‐INSERM‐Bettencourt)."