Figure 1.

Clinical Images and Variant Details

(A) Photographs of the three individuals, showing shared facial dysmorphisms. Individual 1 and individual 3 have round faces, flat facial profiles, down-slanting corners of their mouths, and depressed nasal bridges. Individual 1 and individual 2 have prognathism. The images on the right are sagittal MRI images for individual 2 at the indicated ages, showing progressive cerebellar atrophy (arrow).

(B) Variant location in functional domains of the KAT5 protein.

(C) Affected amino acids are invariant between different species.