A

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

medRxiv

Abstract

The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic patterns are particularly challenged when confronted with patients from populations different from their training data. To that end, we systematically analyzed the impact of genetic ancestry on facial dysmorphism. For that purpose, we established the GestaltMatcher Database (GMDB) as a reference dataset for medical images of patients with rare genetic disorders from around the world. We collected 10,980 frontal facial images - more than a quarter previously unpublished - from 8,346 patients, representing 581 rare disorders. Although the predominant ancestry is still European (67%), data from underrepresented populations have been increased considerably via global collaborations (19% Asian and 7% African). This includes previously unpublished reports for more than 40% of the African patients. The NGP analysis on this diverse dataset revealed characteristic performance differences depending on the composition of training and test sets corresponding to genetic relatedness. For clinical use of NGP, incorporating non-European patients resulted in a profound enhancement of GestaltMatcher performance. The top-5 accuracy rate increased by +11.29%. Importantly, this improvement in delineating the correct disorder from a facial portrait was achieved without decreasing the performance on European patients. By design, GMDB complies with the FAIR principles by rendering the curated medical data findable, accessible, interoperable, and reusable. This means GMDB can also serve as data for training and benchmarking. In summary, our study on facial dysmorphism on a global sample revealed a considerable cross ancestral phenotypic variability confounding NGP that should be counteracted by international efforts for increasing data diversity. GMDB will serve as a vital reference database for clinicians and a transparent training set for advancing NGP technology.

Authors 99

  1. University of Bonn

    Affiliation as printed

    Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany

    Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany

    Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany

    Institute of Human Genetics, University of Bonn, Bonn, Germany

  2. University of Bonn

    Affiliation as printed

    Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany

    Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany

  3. Stellenbosch University · Tygerberg Hospital

    Affiliation as printed

    Division of Molecular Biology and Human Genetics, Stellenbosch University and Medical Genetics, Tygerberg Hospital, Stellenbosch, South Africa

  4. University of Bonn · Institut für Medizinische Biometrie, Informatik und Epidemiologie

    Affiliation as printed

    Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany

    Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, NRW, Germany

    Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany

    Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany

  5. Affiliation as printed

    New York State Institute for Basic Research in Developmental Disabilities, New York State, Albany, New York, USA

    New York State Institute for Basic Research in Developmental Disabilities, New York State, Albany, USA

  6. Heidelberg University

    Affiliation as printed

    Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany

    Institute of Human Genetics, Heidelberg University, Heidelberg, Germany

  7. Alexandria University

    Affiliation as printed

    Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt

    Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt

  8. Universitätsklinikum Aachen · RWTH Aachen University

    Affiliation as printed

    Centre for Rare Diseases Aachen (ZSEA), University Hospital RWTH Aachen, Aachen, NRW, Germany

    Institute for Digitalization and General Medicine, University Hospital RWTH Aachen, Aachen, NRW, Germany

    Centre for Rare Diseases Aachen (ZSEA), University Hospital RWTH Aachen, Aachen, Germany

    Institute for Digitalization and General Medicine, University Hospital RWTH Aachen, Aachen, Germany

  9. University of Bonn

    Affiliation as printed

    Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany

    Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany

  10. University of Malaya

    Affiliation as printed

    Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia

  11. University of Malaya

    Affiliation as printed

    Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia

  12. University of Malaya

    Affiliation as printed

    Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia

  13. Affiliation as printed

    GeneTalk GmbH, Bonn, NRW, Germany

    GeneTalk, Bonn, Germany

  14. Affiliation as printed

    GeneTalk GmbH, Bonn, NRW, Germany

    GeneTalk, Bonn, Germany

  15. University of Bonn

    Affiliation as printed

    Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany

    Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany

  16. University of Bonn

    Affiliation as printed

    Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany

    Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany

  17. University of Bonn

    Affiliation as printed

    Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany

    Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany

  18. University of Rwanda · Centre Hospitalier Universitaire de Kigali

    Affiliation as printed

    College of Medicine and Health Sciences, University of Rwanda, and University Teaching Hospital of Kigali, Kigali, Rwanda

    Department of Clinical Biology, University of Rwanda, Kigali, Rwanda

  19. RWTH Aachen University

    Affiliation as printed

    Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany

    Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany

  20. Tbilisi State Medical University

    Affiliation as printed

    Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia

    Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Georgia

  21. RWTH Aachen University

    Affiliation as printed

    Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany

    Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany

  22. RWTH Aachen University

    Affiliation as printed

    Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany

    Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany

  23. University Hospital Leipzig · Leipzig University

    Affiliation as printed

    Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

  24. University of Cologne · University Hospital Cologne

    Affiliation as printed

    Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany

    Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany

  25. University Hospital Leipzig · Leipzig University

    Affiliation as printed

    Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

  26. TUM Klinikum · Institut für Humangenetik · Technical University of Munich

    Affiliation as printed

    Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany

  27. Meyer Children's Hospital · University of Florence

    Affiliation as printed

    Department of Experimental and Clinical Biomedical Sciences "Mario Serio", Università degli Studi di Firenze, Italy

    Medical Genetics, Meyer Children's Hospital IRCCS, Firenze, Italy

  28. Guy's Hospital · King's College London · Guy's and St Thomas' NHS Foundation Trust · Great Ormond Street Hospital · The Francis Crick Institute

    Affiliation as printed

    Department of Medical & Molecular Genetics, School of Basic and Medical Biosciences, Faculty of Life Sciences & Medicine, King's College London, UK

    Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK

    Neural Stem Cell Biology Laboratory, The Francis Crick Institute, UK

    North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK

  29. Universidade Federal de São Paulo

    Affiliation as printed

    Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil

  30. Universidade Federal de São Paulo

    Affiliation as printed

    Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil

  31. Universidade de São Paulo

    Affiliation as printed

    Genetics Unit, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil

  32. Universidade de São Paulo

    Affiliation as printed

    Genetics Unit, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil

  33. Universidade Federal de São Paulo

    Affiliation as printed

    Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil

  34. University of Bonn

    Affiliation as printed

    Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany

    Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany

  35. University of Bonn

    Affiliation as printed

    Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany

    Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany

  36. Medical University of Białystok

    Affiliation as printed

    Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Bialystok, Poland

    IMAGENE.ME SA, Bialystok, Poland

  37. Medical University of Białystok

    Affiliation as printed

    Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Bialystok, Poland

    IMAGENE.ME SA, Bialystok, Poland

  38. Great Ormond Street Hospital · University College London

    Affiliation as printed

    Department of Genetics and Genomic Medicine, UCL Institute of Child Health, London UK

    North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK

  39. University of Münster · University Hospital Münster

    Affiliation as printed

    Department of Neurology with Institute of Translational Neurology, University Hospital Münster, Münster, NRW, Germany

  40. University of Newcastle Australia

    Affiliation as printed

    School of Medicine and Public Health, University of Newcastle, Callaghan NSW, Australia

  41. University of Cologne · University Hospital Cologne

    Affiliation as printed

    Kabuki Syndrome Foundation, Northbrook, IL, USA

    Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany

  42. University of Bonn · Hunter Genetics · Hunter New England Local Health District

    Affiliation as printed

    Hunter Genetics, Hunter New England Health Service, Newcastle, Australia

    Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany

  43. Erasmus MC

    Affiliation as printed

    Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands

  44. Affiliation as printed

    Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland

  45. Alexandria University

    Affiliation as printed

    Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt

    Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt

  46. RWTH Aachen University

    Affiliation as printed

    Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany

  47. Essen University Hospital · University of Duisburg-Essen

    Affiliation as printed

    Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, NRW, Germany

  48. Universidade de São Paulo

    Affiliation as printed

    Department of Genetics, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Sao Paulo, Brazil

  49. Düsseldorf University Hospital · Heinrich Heine University Düsseldorf

    Affiliation as printed

    Department of General Pediatrics and Neonatology, University Children's Hospital, Heinrich-Heine-University, Medical Faculty, Düsseldorf, Germany

  50. University of Lagos

    Affiliation as printed

    Department of Paediatrics, College of Medicine, University of Lagos, Lagos, Nigeria

  51. Ljubljana University Medical Centre

    Affiliation as printed

    Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia

  52. Ljubljana University Medical Centre

    Affiliation as printed

    Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana

  53. IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola

    Affiliation as printed

    Medical Genetics Unit, Ausl Romagna, Cesena, Italy

    Medical Genetics Unit, Policlinico S. Orsola-Malpighi, Bologna, Italy

  54. Ain Shams University · Armed Forces College of Medicine

    Affiliation as printed

    Medical Genetics Center, Faculty of Medicine, Ain Shams University, Cairo, Egypt

    Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt

  55. Instituto Nacional de Pediatria · Universidad Nacional Autónoma de México

    Affiliation as printed

    Laboratorio de Citogenética, Instituto Nacional de Pediatría, México City, Mexico

    Programa de Maestría y Doctorado en Ciencias Médicas, Odontológicas y de la Salud, Universidad Nacional Autónoma de México, México City, Mexico

  56. IRCCS Materno Infantile Burlo Garofolo

    Affiliation as printed

    Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy

  57. Humboldt-Universität zu Berlin · Berlin Institute of Health at Charité - Universitätsmedizin Berlin · NeuroCure Cluster of Excellence · Freie Universität Berlin · Charité - Universitätsmedizin Berlin

    Affiliation as printed

    Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Junior Clinician Scientist Program, D-10117 Berlin, German

    Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, D-13353 Berlin, Germany

    NeuroCure Cluster of Excellence; Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, D-10117 Berlin, Germany

  58. Thai Red Cross Society · Chulalongkorn University · King Chulalongkorn Memorial Hospital

    Affiliation as printed

    Division of Medical Genetics and Genomics, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand

    Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand

  59. RWTH Aachen University

    Affiliation as printed

    Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany

  60. University of Tübingen

    Affiliation as printed

    Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany

  61. Khalifa University of Science and Technology · Shaikh Khalifa Medical City · Alexandria University

    Affiliation as printed

    Khalifa University, Abu Dhabi, United Arab Emirates

    Pediatric Gastroenterology Department, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates

    Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt

  62. University of Freiburg · University Medical Center Freiburg

    Affiliation as printed

    Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany

  63. Universitat Autònoma de Barcelona · Hospital Universitari Germans Trias i Pujol

    Affiliation as printed

    Paediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain

  64. TUM Klinikum · Institut für Humangenetik · Technical University of Munich

    Affiliation as printed

    Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany

  65. Innsbruck Medical University

    Affiliation as printed

    Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

  66. Autonomous University of Yucatán

    Affiliation as printed

    Universidad Autonoma de Yucatan (University Autonomus of Yucatan), Merida, Yucatan, Mexico

  67. University of Bonn · TUM Klinikum · Institut für Humangenetik · Technical University of Munich

    Affiliation as printed

    Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany

    Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany

  68. George Washington University · Florida International University

    Affiliation as printed

    Department of Human and Molecular Genetics, Florida International University, 11200 SW 8th Street, AHC2 Miami, Florida 22199

    Department of Pediatrics, George Washington University, 2121 I St. NW, Washington D.C. 2005

    Department of Research, The Focus Foundation, 820 W. Central Ave. #190, Davidsonville, MD 21035

  69. Fundación Focus

    Affiliation as printed

    Department of Research, The Focus Foundation, 2772 Rutland Road P.O. Box 190, Davidsonville, MD 21035

  70. Fundación Focus

    Affiliation as printed

    Department of Research, The Focus Foundation, 2772 Rutland Road P.O. Box 190, Davidsonville, MD 21035

  71. University Hospital Leipzig · Leipzig University

    Affiliation as printed

    Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

  72. Research Centre for Medical Genetics

    Affiliation as printed

    Research Centre for Medical Genetics (RCMG), Moscow, Russia

  73. University Hospital Leipzig · Leipzig University

    Affiliation as printed

    Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

  74. University Hospital Leipzig · Leipzig University

    Affiliation as printed

    Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

  75. University Hospital Leipzig · Leipzig University

    Affiliation as printed

    Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

  76. Utrecht University · University Medical Center Utrecht

    Affiliation as printed

    Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands

  77. Cambridge University Hospitals NHS Foundation Trust

    Affiliation as printed

    Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

  78. University of Bonn

    Affiliation as printed

    Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany

  79. University of Freiburg · University Medical Center Freiburg

    Affiliation as printed

    Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany

  80. Alexandria University

    Affiliation as printed

    Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt

    Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt

  81. University of Pavia

    Affiliation as printed

    Department of Molecular Medicine, University of Pavia, Pavia, Italy

  82. University of Pavia

    Affiliation as printed

    Department of Molecular Medicine, University of Pavia, Pavia, Italy

    Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy

  83. Affiliation as printed

    Department of Clinical Genetics, SJD Barcelona Children's Hospital, Esplugues del Llobregat (Barcelona), Spain

  84. University of Freiburg · University Medical Center Freiburg

    Affiliation as printed

    Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany

  85. Alexandria University

    Affiliation as printed

    Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt

    Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt

  86. Vall d'Hebron Institut de Recerca · Vall d'Hebron Hospital Universitari

    Affiliation as printed

    Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Catalunya, Spain

    Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Catalunya, Spain

    Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Spain

    Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Spain

  87. Newcastle upon Tyne Hospitals NHS Foundation Trust · Newcastle University

    Affiliation as printed

    Biosciences Institute, Newcastle University, Central Parkway, Newcastle upon Tyne, UK

    Renal Services, The Newcastle Upon Tyne NHS Hospitals Foundation Trust, Freeman Road, Newcastle Upon Tyne, UK

  88. Humboldt-Universität zu Berlin · Berlin Institute of Health at Charité - Universitätsmedizin Berlin · Charité - Universitätsmedizin Berlin

    Affiliation as printed

    Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany

  89. Humboldt-Universität zu Berlin · Berlin Institute of Health at Charité - Universitätsmedizin Berlin · Charité - Universitätsmedizin Berlin

    Affiliation as printed

    Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany

  90. Humboldt-Universität zu Berlin · Berlin Institute of Health at Charité - Universitätsmedizin Berlin · Charité - Universitätsmedizin Berlin

    Affiliation as printed

    Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany

  91. Humboldt-Universität zu Berlin · Berlin Institute of Health at Charité - Universitätsmedizin Berlin · Charité - Universitätsmedizin Berlin

    Affiliation as printed

    Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany

  92. Heidelberg University · Humboldt-Universität zu Berlin · Berlin Institute of Health at Charité - Universitätsmedizin Berlin · Charité - Universitätsmedizin Berlin

    Affiliation as printed

    Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany

    Institute of Human Genetics, Heidelberg University, Heidelberg, Germany

  93. Humboldt-Universität zu Berlin · Berlin Institute of Health at Charité - Universitätsmedizin Berlin · Charité - Universitätsmedizin Berlin

    Affiliation as printed

    Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany

  94. Humboldt-Universität zu Berlin · Berlin Institute of Health at Charité - Universitätsmedizin Berlin · Charité - Universitätsmedizin Berlin

    Affiliation as printed

    Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany

  95. Humboldt-Universität zu Berlin · University Hospital Leipzig · Berlin Institute of Health at Charité - Universitätsmedizin Berlin · Charité - Universitätsmedizin Berlin · Leipzig University

    Affiliation as printed

    Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany

    Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

  96. Humboldt-Universität zu Berlin · Berlin Institute of Health at Charité - Universitätsmedizin Berlin · Charité - Universitätsmedizin Berlin

    Affiliation as printed

    Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany

  97. University of Malaya

    Affiliation as printed

    Department of Paediatrics, Faculty of Medicine, University Malaya, 59100 Kuala Lumpur, Malaysia

  98. Affiliation as printed

    GeneTalk, Bonn, Germany

  99. Ege University

    Affiliation as printed

    Ege University, Faculty of Medicine, Department of Pediatric Gastroenterology Hepatology and Nutrition, Izmir, Turkey

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References 62