. 2022 Jul 22;10:940294. doi: 10.3389/fped.2022.940294

TABLE 2.

Clinical features of patients in CdLS-like cohort and those in NIPBL cohort.

Clinical feature	NIPBL cohort (n = 34)	KMT2A cohort (n = 6)	ANKRD11 cohort (n = 14)	EP300 cohort (n = 3)	SETD5 cohort (n = 3)	AFF4 cohort (n = 3)	Remaining genes cohort (n = 17)	Chi-square value	P-valve
Synophrys	31	5	10	3	2	3	14	5.049	0.45
Thick eyebrows	17	3	11	0	1	2	2^a	17.772	0.002
Short nose	19	2	0^a	1	0	1	3^a	19.015	0.001
Concave nasal ridge	23	4	5	0^a	2	0^a	5^a	14.383	0.011
Upturned nasal tip	22	2	11	2	1	1	7	8.204	0.192
Smooth philtrum	15	3	5	1	2	0	2	8.899	0.139
Long philtrum	28	3	13	1	1	1	10	14.287	0.012
Downturned corners of mouth	18	3	5	1	1	1	7	2.354	0.924
Thin upper lip vermilion	27	4	7	2	2	0	10	10.158	0.08
Adactyly	2	0	0	0	0	0	0	4.945	0.754
Hand oligodactyly	7	0	0	0	0	0	2	2.420	0.944
Small hands	17	3	8	0	0	0	6	8.008	0.205
Small feet	8	0	5	1	0	0	3	4.438	0.594
Microcephaly	24	5	7	2	0	1	11	8.558	0.164
Global developmental delay and/or intellectual disability	28	6	13	3	3	2	17	6.197	0.294
Prenatal growth retardation	23	1^a	1^a	1	0^a	0^a	4^a	23.496	0.000
Postnatal growth retardation	23	6	1^a	3	1	1	10	24.140	0.000
Hypertrichosis	13	4	2	3	0	0	2	16.143	0.005
Short fifth finger	12	5	6	1	0	0	7	8.137	0.194
Average clinical score (mean ± SD)	12.23 ± 2.58	11 ± 2.19^c	8.92 ± 1.77^b	10 ± 4.58	7.33 ± 2.52^b	5.33 ± 1.53^bc	8.88 ± 2.62^b		< 0.0001

^aIndicates that the incidence of phenotype was statistically significant compared with NIPBL cohort.

^bIndicates that the average clinical score was statistically significant compared with NIPBL cohort.

^cIndicates that the average clinical score of the two groups were statistically significant.