Skip to main content
. Author manuscript; available in PMC: 2021 Dec 2.
Published in final edited form as: Genet Med. 2021 Aug 25;23(12):2360–2368. doi: 10.1038/s41436-021-01297-5

Fig. 1. Summary of craniosynostosis cases and outcomes.

Fig. 1

127 cases with CRS were identified from the Clinical Variant Ark search, shortened to 114 after exclusion of participants recruited to the 100kGP Pilot project, and participants with no definite CRS-related phenotype terms. Potentially diagnostic variants have been identified in 36 cases thus far. 78 remaining cases have either been closed with no primary findings or are awaiting GMC review.