The phenotypic expression of CFEOM in the remaining 11 affected family members, however, is not consistent with that reported for classic CFEOM, and is indistinguishable from that described in moderately and mildly affected members of the CFEOM3 family. Individual findings are described below, diagrammed in Figure 2, group 2, and documented in photographs of individuals V:2 (Figure 4) and III:20 (Figure 5). These individuals differ from previously described individuals with CFEOM1-linked classic CFEOM in (1) the fixed position of their eyes, (2) the ability to elevate their eyes, and/or (3) the absence of ptosis. All 11 individuals have at least 2 of these 3 atypical features. First, both eyes of individuals III:1, III:20, and V:12, and 1 eye of individuals II:1, III:3, III:13, III:23, IV:3, and V:2 are in a neutral, rather than an infraducted, primary position. Similarly, the eyes of individual III:9 are in the horizontal midline but are bilaterally esotropic. Second, 7 of the 11 individuals can elevate their eyes above the midline, although none have full, unrestricted upgaze. Individuals II:1, III:20, and III:23 have some degree of bilateral elevation, and individuals IV:3, IV:35, V:2, and V:12 have some degree of unilateral elevation. Although family members reported individual III:20 to be unaffected, our field examination and review of videotaped eye movements confirmed that he has a mild bilateral restriction of upgaze, with normal bilateral levator functions of 12 mm (Figure 5). Third, 3 individuals (III:20, III:23, and V:12) have absence of ptosis, and 7 individuals have unilateral ptosis (4 right-sided and 3 left-sided). Therefore, of the 11 individuals with atypical findings, only 1 (IV:35) has bilateral infraduction, only 4 have absent upgaze (III:1, III:3, III:9, and III:13), and only 1 (II:1) has bilateral ptosis.