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Table 5 Concordance between a software-identified top match and whether two of three clinical geneticists would definitely have considered this diagnosis based on the image alone

From: Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability

Syndrome

Frequency

Correctly classified by neither

Correctly classified by both

Correctly classified by software, but not clinicians

Correctly classified by clinicians, but not software

McNemars Chi-square

p-value

Kappa

Williams

183

31

66

44

42

0.05

0.82925

0.02

Rubinstein-Taybi

155

28

61

31

35

0.24

0.62246

0.11

Floating Harbor

61

7

33

9

12

0.43

0.51269

0.16

Coffin Lowry

154

42

41

47

24

7.45

0.00634

0.10

Kabuki

195

23

88

18

66

27.43

<.00001

0.09

Smith Magenis

124

34

38

34

18

4.92

0.02650

0.17

PACS1

39

33

2

4

0

4.00

0.04550

0.46

Kleefstra

128

52

9

63

4

51.96

<.00001

0.05

Koolan-de Vries

120

30

37

29

24

0.47

0.49221

0.12

Cornelia de Lange

441

52

264

65

60

0.20

0.65472

0.26