Table 5 Different combinations of clinical features that contributed to the disease molecular diagnosis. The eight prenatal cases were excluded here

Patients analyzed

20

9

24

11

64

Clinical findings

Dysmorphic features + CHD

6

1

3

1

11

Dysmorphic features + Thymus hypoplasia/ aplasia

2

2

Dysmorphic features + CHD + mental disability + immune disorders

6

2

10

1

19

Dysmorphic features + CHD + 

thymus hypoplasia/ aplasia

2

1

2

5

Dysmorphic features + immune disorders + mental disability

1

4

5

10

CHD + thymus / aplasia + immune disorders

3

3

3

9

Total number of cases sharing all of the above characteristics

20

7

22

7

56 (87.5%)

Hypocalcemia and/or hypoparathyroidism in combination with different clinical features

2

3

12

1

18