Author information:
(1)Cologne Center for Genomics (CCG), University of Cologne and University 
Hospital Cologne, Cologne, Germany.
(2)Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, 
Germany.
(3)Human Molecular Genetics Laboratory, Health Biotechnology Division, National 
Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 
Faisalabad, Pakistan.
(4)Department of Neuromuscular Disorders, UCL Institute of Neurology, London, 
UK.
(5)Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey.
(6)Aix Marseille Univ, INSERM, MMG, Marseille, France.
(7)Assistance Publique-Hôpitaux de Marseille, Hôpital La Timone Enfants, 
Département de Génétique Médicale, Marseille, France.
(8)Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, 
Australia.
(9)Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester 
University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
(10)Division of Evolution and Genomic Sciences, School of Biological Sciences, 
Faculty of Biology, Medicine and Health, University of Manchester, Manchester, 
UK.
(11)Department of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal 
University, Dammam, Saudi Arabia.
(12)Institute of Human Genetics, University Medical Center Göttingen, Göttingen, 
Germany.
(13)Paediatric Genetic and Metabolic Service, Tawam Hospital, Al Ain, United 
Arab Emirates.
(14)Department of Biological and Biomedical Sciences, Aga Khan University, 
Karachi, Pakistan.
(15)Pakistan Science Foundation (PSF), Islamabad, Pakistan.
(16)Children's Hospital of Eastern Ontario Research Institute, University of 
Ottawa, Ottawa, Canada.
(17)University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid 
Agriculture University, Rawalpindi, Pakistan.
(18)Neurochemicalbiology and Genetics Laboratory (NGL), Department of 
Physiology, Faculty of Life Sciences, Government College University, Faisalabad, 
Pakistan.
(19)Centre for Biotechnology and Microbiology, University of Swat, Swat, 
Pakistan.
(20)Assistance Publique-Hôpitaux de Marseille, APHM, Hôpital Timone Enfants, 
Service de Neurologie Pédiatrique, Marseille, France.
(21)T.Y. Nelson Department of Neurology and Neurosurgery, The Children's 
Hospital at Westmead, Sydney, Australia.
(22)Specialty of Child and Adolescent Health and Discipline of Genomic Medicine, 
The Children's Hospital at Westmead Clinical School, University of Sydney, 
Sydney, Australia.
(23)Department of Clinical Genetics, The Children's Hospital at Westmead, 
Sydney, Australia.
(24)National Institute for Health Research Oxford Biomedical Research Centre, 
Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
(25)CENTOGENE GmbH, Rostock, Germany.
(26)Department of Otolaryngology, Head and Neck Surgery, Tübingen Hearing 
Research Centre (THRC), Eberhard Karls University Tübingen, Tübingen, Germany.
(27)Department of Bioinformatics & Biotechnology, Faculty of Basic and Applied 
Sciences, International Islamic University, Islamabad, Pakistan.
(28)Department of Pediatric Neurology, Children's Hospital and Institute of 
Child Health, Lahore, Pakistan.
(29)Development and Behavioural Pediatrics Department, Institute of Child Health 
and The Children Hospital, Lahore, Pakistan.
(30)Pediatric Neurology Department, Ghaem Hospital, Mashhad University of 
Medical Sciences, Mashhad, Iran.
(31)Molecular and Clinical Sciences Institute, St. George's, University of 
London, Cranmer Terrace, London, UK.
(32)Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, 
Mashhad, Iran.
(33)Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty 
of Medicine, University Hospital Cologne, Cologne, Germany.
(34)Cluster of Excellence "Multiscale Bioimaging: from Molecular Machines to 
Networks of Excitable Cells" (MBExC), University of Göttingen, Göttingen, 
Germany.
(35)Department of Translational Genomics, Center for Genomic Medicine, King 
Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
(36)Department of Anatomy and Cell Biology, College of Medicine, Alfaisal 
University, Riyadh, Saudi Arabia.
(37)Cologne Center for Genomics (CCG), University of Cologne and University 
Hospital Cologne, Cologne, Germany. mhussain@uni-koeln.de.
(38)Institute of Biochemistry I, Medical Faculty, University of Cologne, 
Cologne, Germany. mhussain@uni-koeln.de.
(39)Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty 
of Medicine, University Hospital Cologne, Cologne, Germany. 
mhussain@uni-koeln.de.
(40)Institute of Human Genetics, University Medical Center Göttingen, Göttingen, 
Germany. goekhan.yigit@med.uni-goettingen.de.
(#)Contributed equally