Figure 1.

Facial morphology of the presently described individuals with a variant in the MKHK region of CREBBP and EP300

Facial features of individuals with a variant in (A) the ZZ domain, (B) TAZ2-domain, (C) ID4, and (D) in between the ZZ and TAZ2-domain (C.ZT.1 en C.ZT.2) and in between TAZ2 and ID4 (C.TI.29). Study numbers are depicted within each photograph reflecting the affected gene (C or E representing CREBBP and EP300) and domain (Z, T, I, ZT, and TI representing ZZ, TAZ2, ID4, the region between ZZ and TAZ2, and the region between TAZ2 and ID4, respectively) followed by a unique number. Study numbers of individuals with a confirmed MKHK episignature or methylation profile are displayed in bold, and those of individuals who were tested but in whom no MKHK episignature or methylation profile was found are in italics. Photographs of the lateral facial characteristics and of the hands and feet are shown in Figure S1. Detailed description of facial and distal limb morphology of all individuals can be found in Table S3.