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Table 7 Concordance between a software-identified match within the top ten closest matches 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 1 105 74 3 65.47 <.00001 −0.02
Rubinstein-Taybi 155 0 96 59 0 . . 0.00
Floating Harbor 61 1 43 15 2 9.94 0.00162 0.02
Coffin Lowry 153 5 63 83 2 77.19 <.00001 0.02
Kabuki 195 1 152 40 2 34.38 <.00001 0.02
Smith Magenis 124 1 56 67 0 67.00 <.00001 0.01
PACS1 39 11 2 26 0 26.00 <.00001 0.04
Kleefstra 128 9 13 106 0 106.00 <.00001 0.02
Koolan-de Vries 120 8 58 51 3 42.67 <.00001 0.09
Cornelia de Lange 441 6 321 111 3 102.32 <.00001 0.06