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Table 2 Clinical features of 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

Total

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

 

Dysmorphic features

Microcephaly

No

No

No

No

Yes

No

No

No

Yes

Yes

Yes

No

4/12

Coarse face

Yes

Yes

No

Yes

No

Yes

Yes

Yes

Yes

No

No

Yes

8/12

Spares hair

No

No

No

No

No

Yes

Yes

No

No

Yes

Yes

No

4/12

Hypertrichosis

Yes

Yes

No

Yes

Yes

No

Yes

Yes

Yes

No

No

Yes

8/12

Narrow forehead

No

Yes

No

No

No

No

No

No

No

Yes

No

No

2/12

Thick eyebrow

Yes

No

Yes

Yes

No

Yes

Yes

Yes

Yes

Yes

Yes

Yes

10/12

Long eyelashes

Yes

No

Yes

Yes

No

Yes

Yes

No

Yes

Yes

No

Yes

8/12

Eyes

Prominent

–

–

Long PF

–

Prominent

–

Puffy eyes

EF, Down slanting PF

Short PF

EF, HT

HT

 

Flat & broad nasal bridge

No

No

No

Yes

Yes

No

Yes

No

Yes

Yes

Yes

No

6/12

Low-set ears

Yes

No

No

Yes

No

No

Yes

No

Yes

Yes

Yes

No

6/12

Philtrum

–

–

–

Short

–

–

Short

–

Short

–

Long

–

 

Large mouth

No

No

No

Yes

No

No

No

No

Yes

No

Yes

No

3/12

Thick lips

Yes

No

No

Yes

No

Yes

Yes

Yes

Yes

No

Yes

Yes

8/12

Micrognathia

Yes

No

No

Yes

No

Yes

Yes

No

Yes

Yes

Yes

No

7/12

Hypoplastic terminal phalanx of the 5th finger

No

No

No

No

No

Yes

Yes

No

Yes

No

No

No

3/12

Hypoplastic nail

No

No

No

Yes

No

Yes

Yes

No

No

Yes

No

Yes

5/12

Clinodactyly

No

No

No

Yes

Yes

No

No

No

No

No

No

No

2/12

Congenital anomalies

CHD

PFO

PFO

Normal

ASD

Normal

Normal

Normal

Normal

Normal

Normal

VSD

Normal

4/12

GI system

–

CP

–

FD

FD

FD

–

CP

IH

IH, FD

IH, FD

–

 

Cryptorchidism

–

–

No

–

No

No

–

–

–

Yes

–

Yes

2/5

Laryngomalacia

No

Yes

No

Yes

No

No

No

No

Yes

Yes

No

No

4/12

Frequent infections

No

No

Yes

Yes

Yes

Yes

Yes

Yes

Yes

No

No

No

7/12

Agenesis/hypoplasia of CC

No

No

ND

Yes

No

Yes

Yes

Yes

Yes

Yes

ND

No

6/12

CNS anomaly

Small pons, ARC

Normal

ND

Hypoplasia of OB

Normal

Mega cisterna magna

No

No

No

No

ND

Normal

 

Hearing loss

No

No

No

No

Yes

No

No

No

No

Yes

No

No

2/12

  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; PF, palpebral fissure; EF, epicanthal folds; HT, hypertelorism; CHD, congenital heart defect; PFO, patent foramen ovale; ASD, atrial septal defect; VSD, ventricular septal defect; GI, gastrointestinal; CP, constipation; FD, feeding difficulty; IH, inguinal hernia; CC, corpus callosum; ND, no data; CNS, central nervous system; ARC, arachnoid cyst; OB, olfactory bulb