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Table 1 Clinical characteristics of 112 ID/DD patients

From: Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene

Group

N

Gender

(M/F)

ID/DD

(mil/mod~)

Malfor-

mation (n, %)

Abnormal behavior

(n, %)

Epilepsy

(n, %)

Family history

(n, %)

MRI abnormality

(n/N, %)

Total

112

69/43

18/94

59, 52.68

25, 22.32

20,17.86

15,13.39

40/67, 59.70

Positive NGS

11

6/5

3/8

7, 63.64

3, 27.27

3, 27.27

2, 18.18

4/7, 57.14

Negative NGS

101

63/38

15/86

52, 51.49

22, 21.78

17,16.83

13, 12.87

36/60, 60.00

x2

 

0.26

1.13

0.59

0.17

0.74

0.24

0.21

p

 

0.61

0.29

0.44

0.68

0.39

0.62

0.88

  1. Note: N number, ID/DD intellectual disability/developmental delay, NGS targeted next generation sequencing, M male, F female, mil mild delay, mod~ moderate or severe delay, Malformation included appearance malformations (dysmorphic face, single transverse palmar crease) and organ abnormality in heart or kidney