Kennis, Milou G. P. https://orcid.org/0000-0002-2432-5438
van Haaften, Leenke
van Hulst, Karen
Pfundt, Rolph
de Leeuw, Nicole https://orcid.org/0000-0002-9796-3342
van Reeuwijk, Jeroen https://orcid.org/0000-0002-0658-4399
Wijngaard, Robin
Vissers, Lisenka E.L.M. https://orcid.org/0000-0001-6470-5497
Brunner, Han G. https://orcid.org/0000-0001-9274-8865
Fisher, Simon E. https://orcid.org/0000-0002-3132-1996
Kleefstra, Tjitske
Snijders Blok, Lot https://orcid.org/0000-0002-9825-3625
Funding for this research was provided by:
Nederlandse Organisatie voor Wetenschappelijk Onderzoek (024.001.00)
Nederlandse Organisatie voor Wetenschappelijk Onderzoek (024.001.00)
Nederlandse Organisatie voor Wetenschappelijk Onderzoek (015.014.036)
Nederlandse Organisatie voor Wetenschappelijk Onderzoek (09032232310061)
Article History
Received: 16 February 2026
Revised: 1 June 2026
Accepted: 31 July 2026
First Online: 17 August 2026
Ethics
Competing interests: The authors declare no competing interests.
Ethics declaration: This study was reviewed and approved by the Medical Ethics Review Committee (METC) Oost-Nederland (number 2018-4783). Written informed consent for participation was obtained from all participants and their parents or legal guardians at inclusion.
Web resources: ClinVar, . GeneReviews, . GnomAD, . OMIM, . UCSC Genome Browser, .