| A rare PRC-2 complex-related overgrowth spectrum disorder characterized by generalized pre and post-natal overgrowth, dysmorphic features (including macrocephaly, prominent forehead, round face, hypertelorism, down-slanting palpebral fissures, and low and broad nasal bridge), intellectual disability, scoliosis, and excessive loose skin. While these clinical features are shared with other diseases in the spectrum, they are less prevalent. Retrognathia, hoarse/low-pitched cry and a low nasal bridge are usually absent. |
