SEF has a Wellcome Trust Senior Research Fellowship (Grant Number 223187/Z/21/Z). JMEM is the recipient of a European Society for Paediatric Endocrinology (ESPE) Research Fellowship and the Foundation for Paediatric Research Postdoctoral Fellowship, MBJ is the recipient of a Diabetes UK/Breakthrough T1D (formerly JDRF) RD Lawrence fellowship, and NDLO is supported by a Wellcome Career Development Award (Grant Number: 227357/Z/23/Z). This study was supported by the National Institute for Health and Care Research Exeter Biomedical Research Centre. The views expressed are those of the author(s) and not necessarily those of the NIHR or the Department of Health and Social Care. Targeted next-generation sequencing to exclude known disease-causing variants was funded by Congenital Hyperinsulinism International (a 501©3 organisation) for individuals recruited to the Exeter cohort.

International Congenital Hyperinsulinism Consortium

Marie-Thérèse Abi Warde13, Mehta Amrita14, Romy Aravena15, Alina Arion16, Navoda Atapattu17, Ivo Barić18, Jérôme Bertherat19, Esra Bilici20, Juliette Bouchereau21, Karine Braun22, Marie-Neige Campas-Lebecque23, Mireille Castanet24, Catie Cessans25, Louise S Conwell26,27, Preeti Dabadghao28, Archana Dayal Arya29, Pascale de Lonlay21,30, Liat de Vries31,32, Céline Droumaguet33, Noémie Faure-Galon34, Olivier Gilly35, Alice Goldenberg36, Anne-Sophie Guemann37, Anne-Marie Guerrot38, Julie Harvengt39, Samar S. Hassan40, Saw Shi Hui41, Khadija Nuzhat Humayun42, M. Ibrahim43, Vandana Jain44, Dhivyalakshmi Jeevarathnam45, Loke Kah Yin46, Vaman Khadilkar47, I. P. S. Kochar48, Abhishek Kulkarni49, Aniket Kumbhojkar50, Delphine Lamireau51, Floris Levy-Khademi52, Catarina Limbert53,54, Martin Lindner55, Catherine Lombard56, François Maillot57, Karine Mention58, Verónica Mericq59, Zainaba Mohamed60,61, Coline Mornet62, Philip Murray63, Alexandre Naccache64, Lusine V. Navasardyan65, Kristen Neville66, Ramona Nicolescu67, Marc Nicolino68, Elisa Nishimura-Meguro69, Nattakarn Numsriskulrat70, Sinead O’sullivan71, Yasmine Ouarezki72, Armelle Pambou73, Florence Petit74, V. P. Praveen75, Mélanie Priou-Guesdon76, Stoeva Radka77, Birgit Rami-Merhar78, Sudha Rao79, Yves Reznik80, Laurence Rulquin62, Maria Salomon Estebanez63, Isabelle Souto81, Antoine Tabarin82, Ana Tangari83, Sara Van Aken84, Charles Verge66, Hélène Vinolas85, Christel Voinot86, Robert Wagner87,88,89, Jan Walker66, Esko Wiltshire90.13Service de Pédiatrie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. 14Bai Jerbai Wadia Hospital for Children, Mumbai, India. 15Pediatric Endocrinology, Carlos Van Buren Hospital, Valparaiso, Chile. 16Competence Center for Inherited Metabolic Diseases, Service de pédiatrie médicale, CHU de Caen - Hôpital de la Côte de Nacre, Caen, France. 17The Lady Ridgeway Hospital for Children, Colombo, Sri Lanka. 18Division for Genetics and Metabolic Diseases, Department of Pediatrics, University Hospital Center Zagreb and University of Zagreb, School of Medicine, Zagreb, Croatia. 19Department of Endocrinology, Cochin Hospital, Assistance Publique Hôpitaux de Paris, Paris, France. 20Pediatric Endocrinology, Zonguldak Bulent Ecevit Univeristesi, Zonguldak, Turkey. 21Inherited Metabolic Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Filière G2M, MetabERN, Paris, France. 22Regional Center of Newborn Screening of Picardy, Amiens University Hospital, Amiens, France and Department of Paediatrics, Amiens University Hospital, Amiens, France. 23University of Bordeaux, INRAE, Bordeaux INP, NutriNeurO, UMR 1286, Bordeaux, France. 24Normandie Univ, UNIROUEN, INSERM, U1239; Rouen University Hospital, Department of Pediatrics, Rouen, France. 25Endocrine, Bone Diseases and Genetics Unit, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, ERN BOND, OSCAR Network, Pediatric Research Unit, Children & apos;s Hospital, Toulouse University Hospital, Toulouse, France. 26Department of Endocrinology and Diabetes, Queensland Children’s Hospital, Brisbane, Queensland, Australia. 27Greater Brisbane Clinical School, The Medical School, Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia. 28Endocrinology, SGPGIMS, Lucknow, India. 29Sir Ganga Ram Hospital, New Delhi, India. 30INSERM U1151, Necker-Enfants Malades Institute (INEM), Paris, France. 31The Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel. 32Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. 33Department of Internal Medicine, Assistance Publique-Hôpitaux de Paris, Henri-Mondor Hospital, Créteil, France. 34Aix-en-Provence Pertuis Hospital, Department of Pediatrics, Avenue des Tamaris, Aix-en Provence, France. 35Department of Metabolic and Endocrine Disease, CHU Nîmes, Université Montpellier, 30900 Nîmes, France. 36University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France. 37Department of Pediatric Metabolism, Reference Center of Inherited Metabolic Disorders, Hôpital Jeanne de Flandre, Lille, France. 38Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU-G4 Génomique, F-76000, Rouen, France. 39Centre for Medical Genetics, Centre Hospitalier Universitaire de Liège, Liège, Belgium. 40Department of Pediatric Endocrinology, Gaafar Ibn Auf Pediatric Tertiary Hospital, Khartoum, Sudan. 41Putrajaya Hospital, Malaysia. 42Department of Paediatrics and Child Health, Aga Khan University, Karachi, Pakistan. 43National Institute of Child health, Karachi, Pakistan. 44All India Institute of Medical Sciences, New Delhi, India. 45Associate Professor, Sri Ramachandra Medical College and RI, Chennai, India. 46Dept of Paediatrics, National University of Singapore. 47Pediatric Endocrinologist, HCJMRI, Jehangir Hospital, Pune, India. 48Indraprastha Apollo Hospital, New Delhi, India. 49SRCC Children’s Hospital and Sir HN Reliance Foundation Hospital, Mumbai. 50Grow Kids Endocrine Clinic, Sangli, India. 51Competence Center for Inherited Metabolic Diseases, Pellegrin University Hospital, Bordeaux, France. 52Division of Pediatric Endocrinology, Shaare Zedek Medical Center, Faculty of Medicine, Hebrew University, Jerusalem, Israel. 53Unit for Paediatric Endocrinology and Diabetes, Centro Hospitalar e Universitário de Lisboa Central, Hospital Dona Estefania, Lisbon, Portugal. 54Nova Medical School, Universidade Nova de Lisboa, Portugal. 55Facharzt für Kinder- und Jugendmedizin, Universitätsklinikum Frankfurt, Grankfurt, Germany. 56Hôpital Edouard Herriot, Hospices Civils de Lyon (HCL), 69437 Lyon, France. 57Reference center for inherited metabolic diseases, Department of Internal Medicine, University Hospital of Tours, Tours, France. 58Pediatric Inherited Metabolic Disorders, Hôpital Jeanne de Flandre, Lille, France. 59Department of Pediatrics, Institute of Maternal and Child Research, Clinica Las Condes, Santiago, Chile. 60Birmingham Women’s and Children’s NHS Foundation Trust, UK. 61IMSR, University of Birmingham, UK. 62Service de Pédiatrie, CHU de la Guadeloupe, Abymes, Guadeloupe, France. 63Royal Manchester Children & apos;s Hospital, Manchester, UK. 64Normandie Univ, UNIROUEN, INSERM, U1239, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Rouen, France; Rouen University Hospital, Department of Pediatrics, Rouen, France. 65Muratsan University hospital, Yerevan State Medical University, Arabkir Medical Center, Yerevan, Armenia. 66Endocrinology, Syndney Children’s Hospital, Randwick and School of Women’s and Children’s Health, UNSW, Sydney, New South Wales, Australia. 67Centre Hospitalier Universitaire Saint Etienne, Saint Etienne, France. 68Hôpital Femme Mère Enfant, Hospices Civils de Lyon, France. 69Hospital de Pediatría CM SXXI, Mexican Social Security Institute. 70Division of Academic Affairs and Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. 71Royal Brisbane and Women’s Hospital, Brisbane, Queensland, Australia. 72EPH Hassan Badi, Algiers, Algeria. 73Hopital Pediatrique d’owendo Libreville, Gabon. 74Centre Hospitalier Universitaire de Lille, Clinique de Génétique Guy Fontaine, Lille, France. 75Amrita Institute of Medical sciences, Kochi, India. 76Service d’Endocrinologie, CH de Saint Brieuc, Saint Brieuc, France. 77Service de Cytogenetique, CHU de Le Mans, Le Mans, France. 78Dept. of Pediatric and Adolescent Medicine, Comprehensive Center for Pediatrics, Medical University of Vienna, Austria. 79Bai Jerbai Wadia Hospital for Children, Mumbai, 400012, India. 80Endocrinology, Diabetology Department, Caen University Hospital, Caen, France. 81Service de Pédiatrie, Centre Hospitalier du Mans, Le Mans, France. 82Department of Endocrinology, Diabetes and nutrition, University and CHU of Bordeaux, Bordeaux, France. 83Pediatric Endocrinology Unit, Saredo, Sanatorio Güemes, Buenos Aires, Argentina. 84Department of Pediatrics, Centre for Children and Adolescents with Diabetes, Ghent University Hospital, Ghent, Belgium. 85Service d'endocrinologie et diabétologie, CHU Henri-Mondor, 94010 Créteil, France. 86CH De Pau, Pau, France. 87Department of Endocrinology and Diabetology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany. 88Institute for Clinical Diabetology, German Diabetes Center, Leibniz Center for Diabetes Research at Heinrich Heine University Düsseldorf, Auf’m Hennekamp 65, 40225 Düsseldorf, Germany. 89German Center for Diabetes Research (DZD), Ingolstädter Landstraße 1, 85764, Neuherberg, Germany. 90Department of Paediatrics and Child Health, University of Otago Wellington, Wellington, New Zealand.