Acknowledgements
We are grateful to all affected individuals and families whose participation in the study enabled the data collection and the analyses. We also thank Hilary C. Martin as the corresponding author of the previous study, and Erin Torti (GeneDx) for referring collaborators to our common study.
Whole genome sequencing for family 9 was supported by the NIH National Center for Advancing Translational Science (NCATS) UCLA Clinical and Translational Science Institute (CTSI) grant number UL1TR001881 and the UCLA California Center for Rare Diseases.