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Table 6 Concordance between a software-identified match within the top five 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 2 103 73 5 59.28 <.00001 −0.02
Rubinstein-Taybi 155 4 94 55 2 49.28 <.00001 0.06
Floating Harbor 61 1 43 15 2 9.94 0.00162 0.02
Coffin Lowry 154 15 59 74 6 57.80 <.00001 0.07
Kabuki 195 2 148 39 6 24.20 <.00001 0.01
Smith Magenis 124 2 56 66 0 66.00 <.00001 0.03
PACS1 39 20 2 17 0 17.00 0.00004 0.11
Kleefstra 128 18 11 97 2 91.16 <.00001 0.00
Koolan-de Vries 120 17 54 42 7 25.00 <.00001 0.18
Cornelia de Lange 441 10 311 107 13 73.63 <.00001 0.06