1. CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28046 Madrid, Spain
2. INGEMM-Idipaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain
3. ITHACA, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain
4. Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, NY 10016, USA
5. Clinical Genetics, NYU Orthopedic Hospital, New York, NY 10010, USA
6. Clinical Genetics Unit, Complejo Hospitalario Universitario Insular-Materno Infantil de Las Palmas de Gran Canaria, 35016 Las Palmas de Gran Canaria, Spain
7. Pediatrics Department, San Pedro de Alcántara Hospital, 10003 Cáceres, Spain
8. Genetics Unit, Hospital de Navarra, 31008 Pamplona, Spain
9. Fundación Valle del Lili, Universidad Icesi, 760032 Cali, Colombia
10. Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul 34752, Turkey
11. Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Acibadem Mehmet Ali Aydinlar University, Istanbul 34752, Turkey
12. Department of Genetics, APHP-Robert Debré University Hospital, 75019 Paris, France
13. INSERM UMR1141, Neurodiderot, University of Paris Cité, 75019 Paris, France
14. Laboratoire de Biologie Médicale Multisites Seqoia-FMG2025, 75014 Paris, France
15. Línea de Investigación de Anomalías Congénitas y Enfermedades Huérfanas-Comfamiliar, Risaralda, Colombia
16. Unidad de Diagnóstico Molecular y Genética Clínica, Hospital Universitario Son Espases, Idisba, 07120 Palma de Mallorca, Spain
17. Sección de Genética Médica, Hospital Clínico Universitario Virgen de la Arrixaca, 30120 Murcia, Spain
18. Instituto Murciano de Investigación Biosanitaria (IMIB), 30120 Murcia, Spain
19. Department of Biology, Institute of Molecular Biology and Biophysics, ETH Zurich, 8092 Zurich, Switzerland