Funding for this research was provided by:
The Society for the Relief of Disabled Children
the Joshua Hellmann Foundation
The Edward and Yolanda Wong Fund
Received: 16 April 2020
Accepted: 27 August 2020
First Online: 10 September 2020
Ethics approval and consent to participate
: The study was approved by the institutional review board of the University of Hong Kong/Hospital Authority Hong Kong West Cluster (IRB Ref. no: UW11-190 and UW12-211). Written informed consent was obtained from the patients or their guardians before performing WES.
: Written informed consent for publication was obtained from the parents of participants.
: J.S. is the CEO of Khondrion, a pharmaceutical company developing compounds to potentially treat mitochondrial disease. Other authors declare no conflict of interest.