Figure 1.

(a)–(f) Development of the facial phenotype of the patients with age: (a)–(c) Patient Arm‐F5‐1 at 7, 19, and 28 years of age; (d)–(f) Patient Arm‐F5‐2 at 7, 17.5, and 27 years of age. While the phenotype of both patients at a young age and of Patient Arm‐F5‐2 till young adulthood was not remarkable, Patient Arm‐F5‐1 developed an appearance with elongated triangular face, frontal bossing, deep‐set small eyes, narrow nasal base, short philtrum, narrow jaw, and micrognathia. (g) Sanger sequencing of the C12orf4 variant in the family. Wild type (wt) and mutated (mut) sequences and their protein translation are shown; arrows point to the mutated position. (h) Schematics of the C12orf4 gene with homozygous variants found in ARID families. The gene has 14 exons (13 coding) shown as black rectangles. The variant from the current family is framed in red. The exact effect of two variants at the protein level is unknown