Whitman, Mary C. http://orcid.org/0000-0001-6297-7499
Barry, Brenda J. http://orcid.org/0000-0003-4358-8126
Robson, Caroline D. http://orcid.org/0000-0001-5592-249X
Facio, Flavia M. http://orcid.org/0000-0002-7472-471X
Van Ryzin, Carol
Chan, Wai-Man http://orcid.org/0000-0002-2888-4739
Lehky, Tanya J. http://orcid.org/0000-0001-6421-505X
Thurm, Audrey http://orcid.org/0000-0002-0489-9485
Zalewski, Christopher http://orcid.org/0000-0002-9196-0589
King, Kelly A.
Brewer, Carmen
Almpani, Konstantinia
Lee, Janice S.
Delaney, Angela http://orcid.org/0000-0002-0632-6365
FitzGibbon, Edmond J. http://orcid.org/0000-0001-6855-7540
Lee, Paul R.
Toro, Camilo http://orcid.org/0000-0002-3917-9031
Paul, Scott M. http://orcid.org/0000-0003-1274-6670
Abdul-Rahman, Omar A.
Webb, Bryn D.
Jabs, Ethylin Wang http://orcid.org/0000-0001-8983-5466
Moller, Hans Ulrik
Larsen, Dorte Ancher
Antony, Jayne H.
Troedson, Christopher
Ma, Alan http://orcid.org/0000-0002-9293-4753
Ragnhild, Glad http://orcid.org/0000-0002-8067-4616
Wirgenes, Katrine V. http://orcid.org/0000-0002-0649-7850
Tham, Emma http://orcid.org/0000-0001-6079-164X
Kvarnung, Malin
Maarup, Timothy James http://orcid.org/0000-0001-9268-6246
MacKinnon, Sarah
Hunter, David G. http://orcid.org/0000-0002-4587-4794
Collins, Francis S. http://orcid.org/0000-0002-1023-7410
Manoli, Irini http://orcid.org/0000-0003-1543-2941
Engle, Elizabeth C. http://orcid.org/0000-0001-8194-7738
Funding for this research was provided by:
National Eye Institute (5K08EY027850, 5K12EY016335)
National Institutes of Health (U01HD079068, ZIA DE000746-06, ZIA HD008919, ZIA HG200389-08, ZIA HG200389-08, NIH Director’s Common Fund to the NIH Undiagnosed Diseases Program, U01HD079068, U01HD079068)
Moebius Syndrome Foundation
National Institute on Deafness and Other Communication Disorders (NIDCD Intramural Research Program, NIDCD Intramural Research Program, NIDCD Intramural Research Program)
Region Stockholm ALF (SLL 500306)
Children's Hospital Ophthalmology Foundation
National Institute of Child Health and Human Development (1U54HD090255)
Howard Hughes Medical Institute
Article History
Received: 6 August 2021
Accepted: 25 September 2021
First Online: 15 October 2021
Declarations
:
: None of the authors have any relevant conflict of interest.
: The Institutional Review Boards at Boston Children’s Hospital (Boston, MA) and National Human Genome Research Institute, National Institutes of Health (Bethesda, MD) approved the study. Individual-level data were de-identified. Sharing of medical record information between collaborating sites was covered by an inter-institute collaborative reliance agreement. Studies were performed in compliance with US 45.CFR.46 and the Declaration of Helsinki.
: Informed consent was obtained from each participant or legal guardian.
: Specific consent for the publication of identifiable photographs was also obtained where indicated.