Figure 1.
CLCN3 variants in affected individuals
(A) Domains present in the protein ClC-3 and the variants presented in the affected individuals.
(B) Pictures of individuals 4, 5, 6, and 9. Individual 4 has a prominent forehead, bushy eyebrows, mild downslanting palpebral fissures, posteriorly rotated ears, and full cheeks; high arched palate also present, but not shown. Individual 5 has a bossed forehead, high anterior hairline, and hypertelorism; clinodactyly of 5th digits also present, but not shown. Individual 6 has notable midface retrusion, full cheeks, and prognathia. Individual 9 has mildly down slanting palpebral fissures, epicanthal folds, flat midface, and mild micrognathia; brachycephaly and long digits also present, but not shown.