Figure 2.

Photographs of individuals with KDM5B variants. (A) Individual No. 5 (p.Ala804Val) at the age of 10 years old. Note the macrotia, straight eyebrows, telecanthus, the full nasal tip, and the broad mouth. (B) Individual No. 19 (Whole gene deletion) at the age of 18 years old. Note the brachycephaly, elongated face, high forehead, temporally sparse hair, broad eyebrows, bilaterally temporal narrowing, downslanted palpebral fissures, short philtrum, facial asymmetry (left side is slightly shorter), increased cervical length and width, and large hands with long, tapered fingers. (C) Individual No. 21 (p.Glu2Ter and p.Trp387Ter) at the age of 4 years old. Note the broad forehead, the midface retraction, the full nasal tip, and the micrognathia.