Skip to main content
. 2019 Oct 24;105(5):1048–1056. doi: 10.1016/j.ajhg.2019.09.025

Figure 2.

Figure 2

Clinical Features of Affected Individuals

(A) Representative photographs demonstrating clinical features of affected individuals; these features include facial features, muscular atrophy, and hand stereotypy. Top row from left to right: Family 2 IV:2, IV:3, IV:1; Family 1 IV:3, IV:2. Bottom row: Family 3 IV:1, IV:2; Family 6 IV:2, IV:1; Family 7 II:1.

(B) Representative MRIs of affected individuals, demonstrating decreased brain volume. From top to bottom: Family 6 IV:2; Family 5 IV:4; Family 5 IV:5.

(C) Bar graph summarizing proportions of various clinical findings affecting individuals.