1. Institute of Human Genetics, Heidelberg University, Heidelberg, Germany
2. Structural Genomics Consortium, University of Oxford, Oxford, UK
3. Laboratory of Clinical Biochemistry and Metabolism, Freiburg University Children's Hospital, Freiburg, Germany
4. Department of Paediatrics I, Heidelberg University, Heidelberg, Germany
5. Department of Medicine I and Clinical Chemistry, Heidelberg University, Heidelberg, Germany
6. Molecular Immunology, German Cancer Research Center, Heidelberg, Germany
7. Department of Paediatrics V, Heidelberg University, Heidelberg, Germany
8. Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
9. Microscopy Unit, Max‐Planck‐Institute for Developmental Biology, Tübingen, Germany
10. Department of Paediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
11. Royal Hospital for Children, Bristol, UK
12. University Children's Hospital, Düsseldorf, Germany
13. College of Medicine, University of Cincinnati, Cincinnati, OH, USA
14. Botnar Research Center, Oxford Biomedical Research Unit; University of Oxford, Oxford, UK
15. Divisions of Human Genetics and Clinical Genetics, Medical University Innsbruck, Innsbruck, Austria