Fig. 2.

Clinical features of patients with C5orf42 biallelic variants. a–d male patient 9 at 1 year 3 months (a–c) and 9.5 years (d); e–i female patient 10 at 2 years 8 months (e), about 6.5 years (f) and about 14 years (h, i); j–k female patient 11 at about 2.5 (j) and 7.5 (k) years of age; l–m patient 12 (brother of patient 11) at 8 months (l) and 6 years (m) of age. Note the hallux duplication in patients 9 (c) and 10 (g) and ACLS-like craniofacial features in all patients being more evident in early childhood but becoming milder with time