Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome

Figures & data

Figure 1 Clinical photograph of the present patient showing mild facial dysmorphic features, including deeply set eyes and a prominent nose with high nasal bridge, possibly fitting within the spectrum of facial dysmorphic features in BRPS.

Note: They are, however, neither very specific nor easily recognizable.
Abbreviation: BRPS, Bainbridge-Ropers syndrome.