Table 2 Clinical characteristics of the diagnosed GD and control cohorts

Anemia

 Anemias

614

81.22

43 (21)

567,739

42.75

44 (22)

***

***

Blood disorder

 Coagulation defects

31

4.1

49 (25)

6922

0.52

56 (20)

***

 Pancytopenia

32

4.23

44 (25)

3794

0.29

62 (18)

***

 Thrombocytopenia

300

45.73

43 (22)

26,644

8.12

57 (21)

***

***

Bone disorder

 Arthralgia

19

2.51

48 (18)

12,932

0.97

56 (18)

***

 Arthrogryposis

9

1.19

68 (11)

9882

0.74

53 (19)

 Avascular necrosis

31

4.1

48 (18)

926

0.07

55 (18)

***

 Bone density disorders

229

30.29

54 (17)

49,065

3.69

67 (13)

***

***

 Bone pain

65

8.6

43 (18)

2958

0.22

50 (21)

***

 Chondropathies

10

1.32

52 (24)

8913

0.67

48 (20)

*

 Delayed skeletal maturation

11

1.46

48 (22)

3908

0.29

56 (20)

***

 Erlenmeyer flask deformity

0

0

827

0.06

45 (20)

 Joint dislocation

2

0.26

58 (5)

3013

0.23

43 (21)

 Kyphosis

15

1.98

43 (29)

3709

0.28

62 (22)

***

*

 Osteoarthritis

150

19.84

60 (15)

112,928

8.5

63 (14)

***

***

 Osteolysis

5

0.66

66 (7)

203

0.02

58 (19)

***

 Osteonecrosis

50

6.61

47 (18)

1464

0.11

56 (17)

***

 Osteopenia

77

10.19

48 (19)

11,140

0.84

66 (12)

***

 Osteoporosis

58

7.67

58 (15)

13,119

0.99

68 (13)

***

 Pathological fracture

11

1.46

53 (18)

2283

0.17

65 (19)

***

 Spine deformation

0

0

136

0.04

40 (29)

Cerebral/nervous system disorder

 Ataxia

10

1.32

51 (29)

4534

0.34

62 (19)

***

 Bradykinesia

4

0.53

62 (11)

359

0.03

70 (13)

***

 Cranial nerve disorders

1

0.13

84

267

0.02

55 (20)

 Developmental regression

51

6.75

36 (29)

34,475

2.6

39 (31)

***

**

 Dysphagia

57

7.54

50 (27)

34,106

2.57

58 (21)

***

***

 Extrapyramidal disorder

5

0.66

53 (15)

1660

0.13

52 (21)

***

 Gaze palsy

1

0.13

46

77

0.01

49 (27)

*

 Hearing impairment

66

8.73

55 (23)

57,555

4.33

53 (25)

***

**

 Hemiplegia/hemiparesis

7

0.93

55 (22)

6215

0.47

63 (19)

*

 Hydrocephalus

6

0.79

60 (29)

2078

0.16

50 (28)

***

 Laryngeal spasm

3

0.4

29 (41)

468

0.04

40 (27)

***

 Muscle hypotonia

7

0.93

3 (2)

587

0.04

9 (17)

***

 Myoclonic seizure

1

0.13

17

144

0.01

30 (19)

 Nerve root compression

0

0

419

0.03

56 (17)

 Oculomotor apraxia

4

0.53

28 (36)

286

0.02

39 (29)

***

 Opticokinetic nystagmus

5

0.66

26 (32)

1126

0.08

40 (26)

***

 Paralytic strabismus

1

0.13

15

676

0.05

28 (26)

 Parkinson

22

2.91

64 (11)

3434

0.26

73 (11)

***

 Tonic clonic seizure

1

0.15

9

159

0.05

42 (23)

Development disorders

 Delayed puberty

1

0.13

13

292

0.02

16 (9)

 Growth retardation

6

0.79

15 (13)

219

0.02

11 (14)

***

**

 Short stature

7

0.93

11 (4)

1908

0.14

11 (11)

***

Eye disorder

 Corneal disorders

7

0.93

49 (32)

2396

0.18

58 (20)

***

 Non diabetic retinopathy

3

0.4

61 (26)

2232

0.17

50 (28)

General signs

 Abdominal pain

217

28.7

47 (22)

227,908

17.16

42 (22)

***

***

 Elevated CRP

5

0.66

52 (16)

2204

0.17

50 (21)

**

 Fatigue

222

29.37

47 (19)

111,605

8.4

51 (21)

***

*

 Fever

143

18.92

41 (23)

171,634

12.92

34 (25)

***

***

 Gingival bleeding

2

0.26

51 (32)

230

0.02

42 (28)

***

 Muscle atrophy

4

0.53

77 (12)

120

0.01

61 (16)

***

 Tremor

27

4.12

53 (22)

4153

1.27

56 (20)

***

 Vitamin D deficiency

116

17.68

50 (19)

20,321

6.2

54 (18)

***

*

Heart disorder

 Valve calcification

9

1.37

72 (14)

1740

0.53

69 (14)

**

Hepatic disorders

 Cirrhosis

14

1.85

46 (16)

5889

0.44

60 (13)

***

 Hepatic fibrosis

6

0.79

48 (29)

514

0.04

55 (15)

***

 Hepatitis

19

2.51

49 (23)

4761

0.36

54 (17)

***

 Portal hypertension

13

1.72

38 (22)

2734

0.21

59 (13)

***

Immunology

 Polyclonal gammopathy

4

0.53

60 (19)

308

0.02

52 (22)

***

Kidney disorder

 Acute kidney disease

31

4.1

66 (14)

4214

0.32

56 (20)

***

 Hematuria

74

9.79

53 (21)

61,349

4.62

52 (21)

***

*

 Proteinuria

34

4.5

53 (22)

18,060

1.36

53 (21)

***

Malignancy

 Liver neoplasm

3

0.4

55 (26)

1452

0.11

63 (14)

 Malignant melanoma

5

0.66

63 (7)

3092

0.23

62 (15)

*

 Multiple myeloma

7

0.93

61 (10)

1213

0.09

67 (13)

***

 Non Hodgkin Lymphoma

8

1.06

61 (27)

1738

0.13

65 (16)

***

 Other malignant neoplasms

2

0.26

38 (46)

150

0.01

56 (21)

***

 Pancreatic cancer

2

0.26

55 (15)

1381

0.1

67 (13)

 Uncertain neoplasms

41

6.25

58 (16)

1259

0.38

60 (19)

***

Organomegaly

 Hepatomegaly

134

17.72

35 (22)

6230

0.47

52 (18)

***

**

 Splenomegaly

238

36.28

39 (21)

2036

0.62

52 (19)

***

***

 Ventriculomegaly

2

0.3

74 (0)

15

0

58 (26)

***

Perinatal disorders

 Hydrops fetalis

1

0.13

2

34

0

21 (15)

***

 Ichthyosis

0

0

221

0.02

44 (27)

Psychiatric disorders

 Dementia non-senile

19

2.51

69 (16)

17,888

1.35

78 (10)

**

***

 Depression

159

21.03

50 (20)

165,339

12.45

46 (20)

***

**

Respiratory disorder

 Interstitial pulmonary abnormality

7

0.93

44 (36)

2600

0.2

67 (16)

***

**

 Pulmonary fibrosis

13

1.72

63 (20)

6865

0.52

67 (15)

***

***

 Pulmonary hypertension

33

4.37

58 (20)

11,173

0.84

69 (17)

***

 Respiratory failure

35

4.63

57 (29)

27,676

2.08

63 (20)

***

***