Skip to main content

Table 1 Basic clinical information on the patients with SSRIDDs

From: Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea

Case ID

1

2

3

4

5

6

7

8

9

10

11

12

Diagnosis

CSS

CSS

A-ID

CSS

CSS

CSS

CSS

CSS

CSS

CSS

CSS

NCBRS

Sex

F

F

M

F

M

M

F

F

F

M

F

M

Age at initial visit

18 months

11 months

6 months

At birth

8 months

At birth

2 years

19 days

78 days

4 months

1 months

22 months

Reason of genetic testing

DD

DD

DD

DD

DD

DD, CNS anomaly

DD

DD

DD, epilepsy

DD

DD, short stature

DD, epilepsy

Age at diagnosis (year)

3

3

2

3

5

3

2

5

7

11 months

5

3

Current age (year)

3

6

3

4

6

3

3

6

8

1

15

3

GA at birth (weeks)

38

39

41

38

38

38

37

39

37

37

41

37

Birth weight (kg)

2.7

2.92

2.73

2.13

2.2

2.48

2.9

2.61

2.11

2.28

2.5

2.9

SGA

No

No

Yes

Yes

Yes

Yes

No

No

Yes

Yes

Yes

No

Perinatal event

OH

No

No

OH

TTN

No

No

No

Seizure

TTN

No

No

Current height (SDS)

 − 1.33

0.37

 − 1.13

 − 2.8

 − 3.02

 − 3.51

0.21

 − 2.72

 − 2.17

 − 3.57

 − 1.97

 − 0.01

Current weight (SDS)

 − 0.16

 − 0.27

 − 0.62

 − 2.49

 − 2.19

 − 2.96

 − 0.45

 − 2.32

 − 3.1

 − 4.06

 − 1.59

0.24

Short stature

No

No

No

Yes

Yes

Yes

No

Yes

Yes

Yes

Yes (GH)

No

  1. SSRIDDs, switch/sucrose nonfermenting complex-related intellectual disability disorders; CSS, Coffin–Siris syndrome; A-ID, ARID1B-related intellectual disability; NCBRS, Nicolaides–Baraitser syndrome; F, female; M, male; DD, developmental delay; CNS, central nervous system; GA, gestational age; SGA, small for gestational age; OH, oligohydramnios; TTN, transient tachypnea of the newborn; SDS, standard deviation score; GH, growth hormone