Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia. Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia. Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Genetic Health Service NZ-South Island Hub, Christchurch Hospital, Christchurch, New Zealand. Genetic Health Queensland, MNHHS, Brisbane and School of Medicine, The University of Queensland, Brisbane, Queensland, Australia. South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia. South Australian Clinical Genetics Service, SA Pathology, Adelaide, South Australia, Australia. Hospital del Mar Research Institute, Network Research Centre for Rare Diseases and Universitat Pompeu Fabra, Barcelona, Spain.