Skip to main content
. 2011 Nov 30;20(4):381–388. doi: 10.1038/ejhg.2011.220

Table 1. Facial KS morphology scores.

          Average
Photograph number MLL2 mutation status Patient number Type of mutation Total score (max 115) Mean Median
14 + KS86 Frameshift insertion 113 4.91 5
23 + KS49 Frameshift deletion 103 4.48 5
32 + KS33 Nonsense 103 4.48 5
20 + KS55 Frameshift insertion 102 4.43 5
17 + KS82 Frameshift deletion 101 4.39 5
15 + KS85 Frameshift deletion 100 4.35 4
1 + KS01 Frameshift deletion 98 4.26 4
8 + KS100 Frameshift deletion 95 4.13 4
10 + KS06 Frameshift deletion 94 4.09 4
33 + KS30 Missense 92 4 4
28 + KS38 Frameshift insertion 84 3.65 4
5 + KS03 Nonsense 81 3.52 4
3 + KS45 Frameshift deletion 78 3.39 4
25 + KS48 Frameshift deletion 78 3.39 3
21 + KS51 Nonsense 70 3.04 3
30 + KS36 Nonsense 58 2.52 2
35 + KS62 Frameshift deletion 57 2.48 2
39 + KS67 Frameshift insertion 57 2.48 2
34 KS110 NA 93 4.04 4
4 KS02 NA 75 3.26 3
7 KS90 NA 64 2.78 3
12 KS111 NA 64 2.78 3
37 KS64 NA 61 2.65 3
22 KS66 NA 59 2.56 2
24 KS115 NA 59 2.56 3
40 KS68 NA 59 2.56 3
6 KS05 NA 57 2.48 2
31 KS35 NA 55 2.39 2
9 KS63 NA 55 2.39 2
26 KS46 NA 52 2.26 2
2 KS89 NA 47 2.04 2
29 KS37 NA 44 1.91 2
18 KS59 NA 39 1.69 2

Abbreviation: NA, not applicable. The table is sorted as per MLL2 mutation status and then by descending total scores.

The statistical test was performed on individual scores given by each participant to each patient but only the total, mean and median scores are presented here.