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

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

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

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