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. 2018 Mar 22;102(4):685–695. doi: 10.1016/j.ajhg.2018.02.012

Figure 1.

Figure 1

Clinical Characteristics of Subject 1 at the Age of 5 Years

Clinical features include (A) slightly up-slanting palpebral fissures and left-eye strabismus, (B) low-set ears, and redundant skin on the (C) abdomen and (D) hands.