Table 2 Clinical manifestations of patients with ADNP variants in the current study

ID/GDD

100

15/15

5/5

10/10

Premature birth

20

3/15

2/5

1/10

Behavioral assessment

Autistic features

92.3

12/13

4/5

8/8

Attention-deficit/hyperactivity disorder

100

2/2

1/1

1/1

Temper tantrums/aggression

69.2

9/13

3/5

6/8

Mood disorders

50

1/2

0/1

1/1

Self-injurious behavior

30.8

4/13

1/5

3/8

Sleep problems

30.8

4/13

1/5

3/8

Hypotonia

46.2

6/13

4/5

2/8

Hypertonia

23.1

3/13

0/5

3/8

Insensitivity to pain

46.2

6/13

3/5

3/8

Multiple systems problems

Short stature

13.3

2/15

2/5

0/10

obesity

20

3/15

1/5

2/10

Ophthalmological anomalies

66.7

10/15

5/5

5/10

Cardiovascular anomalies

46.7

7/15

4/5

3/10

Feeding and gastrointestinal problems

66.7

10/15

2/5

8/10

Hearing impairment

13.3

2/15

0/5

2/10

Abnormalities of musculoskeletal system

13.3

2/15

0/5

2/10

Abnormalities of urogenital system

33.3

5/15

0/5

5/10

Seizures

0

0/15

0/5

0/10

Frequent infections

20

3/15

0/5

3/10

Premature eruption of primary teeth

13.3

2/15

2/5

0/10

Widely spaced nipples

20

3/15

2/5

1/10

Hand and foot deformities

53.3

8/15

3/5

5/10

Neurological findings

Mild abnormal brain MRI

100

11/11

4/4

7/7

Abnormal EEG

9.1

1/11

1/4

0/7