Table 1 Phenotypic characteristics of 104 patients with different genetic subtypes

General information

Case evaluated

n = 11

n = 8

n = 19

n = 29

n = 56

n = 85

Maternal age

32.0 ± 3.5

30.5 ± 3.1

31.4 ± 3.4

28.6 ± 4.5

27.2 ± 3.5

27.8 ± 3.8*

Diagnosis age

 ≤ 1 year (percentage)

7 (63.64%)

4 (50%)

11 (57.89%)

19 (65.52%)

32 (57.14%)

51 (60.00%)

 > 1 year (average)

4.3 ± 2.5

5.3 ± 3.0

4.8 ± 2.6

3.7 ± 3.3

6.2 ± 3.2^#

5.6 ± 3.4

Sex

female

5 (45.45%)

3 (37.5%)

8 (42.11%)

12 (42.86%)

24 (42.86%)

36 (42.86%)

male

6 (54.55%)

5 (62.5%)

11 (57.89%)

17 (58.62%)

32 (57.14%)

49 (57.65%)

Neonatal (≤ 2 m)

Cases evaluated

n = 11

n = 8

n = 19

n = 29

n = 56

n = 85

Hypotonia

11 (100%)

8 (100%)

19 (100%)

29 (100%)

56 (100%)

85 (100%)

Feeding problems

9 (81.82%)

8 (100%)

17 (89.47%)

29 (100%)

52 (92.86%)

81(95.29%)

Cryptorchidism (/male)

5/6 (83.33%)

5/5 (100%)

10/11 (90.91%)

15/17 (88.24%)

29/32 (90.63%)

44/49 (89.80%)

Hypopigmentation

5 (45.45%)

3 (37.5%)

8 (42.11%)

20 (68.97%)

38 (67.86%)

58 (68.24%)*

Infancy (2 m ~  ≤ 2 y)

Cases evaluated

n = 11

n = 7

n = 18

n = 29

n = 55

n = 84

Motor delay

11 (100%)

7 (100%)

18 (100%)

29 (100%)

55 (100%)

84 (100%)

Dysmorphic face ^a

4 (36.36%)

2 (28.57%)

6 (33.33%)

12 (41.38%)

20 (36.36%)

32 (38.10%)

Short stature ^b

8 (72.73%)

6 (85.71%)

14 (77.78%)

26 (89.66%)

47 (85.45%)

73 (86.90%)

Small hands and feet

4 (36.36%)

4 (57.14%)

8 (44.44%)

17 (58.62%)

27 (49.09%)

44 (52.38%)

Sticky saliva

9 (81.82%)

5 (71.43%)

14 (77.78%)

24 (82.76%)

43(78.18%)

67 (79.76%)

Sleeping disorder

4 (36.36%)

2 (28.57%)

6 (33.33%)

10 (34.48%)

20 (36.36%)

30 (35.71%)

Temperature instability ^c

3 (27.27%)

1 (14.29%)

4 (22.22%)

9 (31.03%)

14 (25.45%)

23 (27.38%)

Childhood (2 y ~  ≤ 10 y)

Cases evaluated

n = 8

n = 6

n = 14

n = 22

n = 47

n = 69

Hyperphagia

6 (75%)

4 (66.67%)

10 (71.43%)

17 (77.27%)

34 (72.34%)

51 (73.91%)

Obesity ^d

4 (50%)

4 (66.67%)

8 (57.14%)

15 (68.18%)

28 (59.57%)

43 (62.32%)

Speech delay ^e

6 (75%)

5 (83.33%)

11 (78.57%)

21 (95.45%)

30 (63.83%)^#

51 (73.91%)

Learning disabilities

8 (100%)

6 (100%)

14 (100%)

22 (100%)

45 (95.74%)

67 (97.10%)

Temper tantrums

5 (62.5%)

4 (66.67%)

9 (64.29%)

16 (72.73%)

31 (65.96%)

47 (68.12%)

Compulsive behavior

4 (50%)

2 (33.33%)

6 (42.86%)

12 (54.55%)

23 (48.94%)

35 (50.72%)

Anxiety

4 (50%)

5 (83.33%)

9 (64.29%)

6 (27.27%)

12 (25.53%)

18 (26.09%)*

Autistic traits

4 (50%)

4 (66.67%)

8 (57.14%)

7 (31.82%)

11 (23.40%)

18 (26.09%)*

Skin picking

3 (37.5%)

3 (50%)

6 (42.86%)

16 (72.73%)

33 (70.21%)

49 (71.01%)*

High pain threshold

3 (37.5%)

2 (33.33%)

5 (35.71%)

8 (36.36%)

15 (31.91%)

23 (33.33%)

Teenage (> 10 y)

Cases evaluated

n = 1

n = 1

n = 2

n = 3

n = 10

n = 13

Lack of satiety

1 (100%)

1 (100%)

2 (100%)

3 (100%)

8 (80%)

11 (84.62%)

Cases evaluated > 13y

n = 1

n = 0

n = 1

n = 2

n = 8

n = 10

Early adrenarche

1 (100%)

NA

1 (100%)

1 (50%)

5 (62.5%)

6 (60%)

Incomplete/delayed puberty

0 (0%)

NA

0 (0%)

2 (100%)

7 (87.5%)

9 (90%)

Hypogonadism ^f

1 (100%)

NA

1 (100%)

2 (100%)

7 (87.5%)

9 (90%)