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Table 1 Demographic features and family history of included patients

From: Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations

Patients NO

Age(m)

Age at (m)

presentation

Age(m)

diagnosis

Delay

Of diagnosis

(m)

Sex

Consanguineous

Marriage

FH of Sandhoff

Disease

History of previous disease

History of maternal abortion

FH of unexplained death

Dead/Alive

1

12

5

10

5

F

+

NI

Alive

2

16

10

11

1

F

+

+

NI

+

+

Alive

3

20

6

20

16

M

+

NI

+

Dead

4

18

7

18

11

M

+

Alive

5

10

3

10

7

M

Dead

6

12

7

11

4

F

+

Dead

7

20

9

19

10

F

Alive

8

20

12

20

8

M

+

Dead

9

9

5

9

4

F

+

Dead

10

22

6

22

16

M

+

Dead

11

20

6

18

12

F

+

Dead

12

18

6

18

12

F

+

Dead

13

14

2

12

10

F

+

NI

Alive

14

18

6

16

6

F

Dead

15

14

4

14

10

F

Alive

16

20

2

20

18

M

+

+

Alive

17

22

12

10

6

F

+

+

Alive

18

13

12

13

1

M

+

NI

Alive

19

12

5

12

7

M

+

+

+

Alive

20

11

9

11

2

M

+

NI

+

Dead

21

12

6

10

4

M

Alive

22

13

4

13

9

F

+

+

Alive

23

12

6

12

6

F

+

+

Alive

24

10

4

10

6

M

+

+

Alive

25

24

6

12

6

M

+

+

+

Dead

  1. M month, NL normal, NI neonatal icterus, FH familial history, F female, M male, NO number