Fig. 3. Facial features of BCAP31 patients.

The males P6 and P9 have a LoF variant of BCAP31. P14 has a missense variant. P13 is a female with a LoF variant. There does not seem to be a specific facial gestalt for BCAP31 anomalies. Some common features have been noted with deep-set eyes, as P6 and P13, hypotonic face as seen in P6, P9, and P14, high nasal bridge for P6, high and narrow bridge for P9 and P13.