Engel, Camille http://orcid.org/0000-0003-1531-7628
Valence, Stéphanie http://orcid.org/0000-0003-4530-4537
Delplancq, Geoffroy
Maroofian, Reza
Accogli, Andrea
Agolini, Emanuele
Alkuraya, Fowzan S. http://orcid.org/0000-0003-4158-341X
Baglioni, Valentina
Bagnasco, Irene
Becmeur-Lefebvre, Mathilde http://orcid.org/0000-0002-9102-6884
Bertini, Enrico http://orcid.org/0000-0001-9276-4590
Borggraefe, Ingo
Brischoux-Boucher, Elise http://orcid.org/0000-0002-4816-1431
Bruel, Ange-Line http://orcid.org/0000-0002-0526-465X
Brusco, Alfredo http://orcid.org/0000-0002-8318-7231
Bubshait, Dalal K.
Cabrol, Christelle
Cilio, Maria Roberta
Cornet, Marie-Coralie http://orcid.org/0000-0001-5233-0800
Coubes, Christine
Danhaive, Olivier
Delague, Valérie http://orcid.org/0000-0003-2652-362X
Denommé-Pichon, Anne-Sophie http://orcid.org/0000-0002-8986-8222
Di Giacomo, Marilena Carmela
Doco-Fenzy, Martine
Engels, Hartmut http://orcid.org/0000-0003-1007-1809
Cremer, Kirsten
Gérard, Marion
Gleeson, Joseph G. http://orcid.org/0000-0002-6713-8018
Heron, Delphine
Goffeney, Joanna
Guimier, Anne
Harms, Frederike L. http://orcid.org/0000-0003-2610-0600
Houlden, Henry http://orcid.org/0000-0002-2866-7777
Iacomino, Michele
Kaiyrzhanov, Rauan
Kamien, Benjamin
Karimiani, Ehsan Ghayoor
Kraus, Dror
Kuentz, Paul http://orcid.org/0000-0003-2814-6303
Kutsche, Kerstin
Lederer, Damien
Massingham, Lauren
Mignot, Cyril
Morris-Rosendahl, Déborah http://orcid.org/0000-0002-7780-4707
Nagarajan, Lakshmi
Odent, Sylvie
Ormières, Clothilde
Partlow, Jennifer Neil
Pasquier, Laurent http://orcid.org/0000-0003-3985-1286
Penney, Lynette
Philippe, Christophe http://orcid.org/0000-0001-7098-6520
Piccolo, Gianluca http://orcid.org/0000-0003-2815-6288
Poulton, Cathryn
Putoux, Audrey
Rio, Marlène
Rougeot, Christelle
Salpietro, Vincenzo http://orcid.org/0000-0003-0132-7921
Scheffer, Ingrid
Schneider, Amy http://orcid.org/0000-0001-5260-7187
Srivastava, Siddharth http://orcid.org/0000-0001-7008-1879
Straussberg, Rachel
Striano, Pasquale http://orcid.org/0000-0002-6065-1476
Valente, Enza Maria http://orcid.org/0000-0002-0600-6820
Venot, Perrine
Villard, Laurent http://orcid.org/0000-0001-6657-5008
Vitobello, Antonio http://orcid.org/0000-0003-3717-8374
Wagner, Johanna
Wagner, Matias http://orcid.org/0000-0002-4454-8823
Zaki, Maha S. http://orcid.org/0000-0001-7840-0002
Zara, Federizo
Lesca, Gaetan http://orcid.org/0000-0001-7691-9492
Yassaee, Vahid Reza
Miryounesi, Mohammad
Hashemi-Gorji, Farzad http://orcid.org/0000-0002-9996-9406
Beiraghi, Mehran
Ashrafzadeh, Farah
Galehdari, Hamid
Walsh, Christopher http://orcid.org/0000-0002-0156-2238
Novelli, Antonio http://orcid.org/0000-0002-9037-4297
Tacke, Moritz
Sadykova, Dinara
Maidyrov, Yerdan
Koneev, Kairgali
Shashkin, Chingiz
Capra, Valeria
Zamani, Mina
Van Maldergem, Lionel
Burglen, Lydie http://orcid.org/0000-0002-1119-6809
Piard, Juliette http://orcid.org/0000-0001-5244-5325
Article History
Received: 22 December 2022
Revised: 26 April 2023
Accepted: 7 June 2023
First Online: 21 June 2023
Competing interests
: The authors declare no competing interests.
: Individuals were referred by clinical geneticists for genetic testing as part of routine clinical care. All patients enrolled and/or their legal representative have signed informed consent for use of data and/or photographs. This study has been performed in accordance with the Declaration of Helsinki.