Clinical Characteristics

Intellectual disability, delayed language, hypotonia and dysmorphic features (Broad forehead, flat facial profile round face, round face, broad nasal root, fleshy nose, widely spaced eyes with downslanting palpebral fissures, ptosis/blepharophimosis, short  or long philtrum, small or wide mouth and ear anomalies) are all clinical manifestations described in individuals with pathogenic variants in BRPF1. In some affected individuals, brain imaging also revealed decreased white matter.