Fig. 1

Phenotypic features of DGDP005. a Facial and head appearance including macrocephaly and upper body picture at 4 years (b) Lateral facial feature of 4 years of age showing frontal bossing (c) Full body picture as a 7 years old (d) upper body and head appearance presenting with macrocephaly at 12 (e) 13 (f) 16 and (g) 18 years of age