Table 2 Clinical details of 26 patients with A-T.

From: Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India

Case

1

2

3

4

5#

6#

7

8

9

10

11

12

13

14

15

16

17

18

19

20

21

22

23

24

25

26

Gender

M

F

M

M

F

M

F

F

F

F

F

F

F

F

F

M

F

M

M

F

M

M

F

F

M

M

Age (years)

5.5

12

9

3

3.5

2

6

10

3

7

9

4

8

8

6

2

9

9

8

7

12

7

3

10

8

11

Age of onset (years)

3

2

1.8

0.9

0.9

0.9

2

2.5

1.5

3

2

1.8

2

1.1

2

0.9

3

3

3

1.1

2.8

0.6

1.6

3.5

1.8

2

Fever/cough episode

+

+

+

+

+

+

+

+

+

+

+

+

+

+

Loose stools

+

+

+

+

Recurrent infections

+

+

+

+

+

+

+

+

+

+

+

+

+

+

Immunodeficiency

+

*

+

*

*

*

+

+

+

+

*

+

*

*

+

+

+

+

*

*

+

+

*

*

*

Gait abnormality

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

Swaying while sitting

+

+

+

+

+

+

Ocular telangiectasia

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

Pallor

+

+

+

+

+

+

+

Nystagmus

+

+

+

Cerebellar atrophy

+

+

*

+

+

+

+

*

*

+

+

+

+

*

*

+

Visual impairment

+

+$

Dysarthria

+

+

+

+

  1. #Siblings (in adjacent columns). *Data not available. $Retinitis pigmentosa.