Abnormal pigmentation
|
phenotype |
|
Finding
|
58
|
5
|
0.100 |
None |
|
0 |
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|
Generalized hirsutism
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
113
|
3
|
0.100 |
None |
|
0 |
|
|
|
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.100 |
None |
|
0 |
|
|
|
Spinal rigidity
|
phenotype |
|
Finding
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Broad foot
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Oligomenorrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
37
|
1
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle hypertrophy
|
phenotype |
|
Organ or Tissue Function
|
21
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
Osteopenia
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
845
|
61
|
0.100 |
None |
|
0 |
|
|
|
Palpitations
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
|
Finding
|
70
|
7
|
0.100 |
None |
|
0 |
|
|
|
Pancreatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
502
|
80
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary arterial hypertension
|
disease |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
413
|
70
|
0.100 |
None |
|
0 |
|
|
|
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
560
|
635
|
0.100 |
None |
|
0 |
|
|
|
Palpitations, CTCAE
|
phenotype |
|
Finding
|
64
|
|
0.100 |
None |
|
0 |
|
|
|
Idiopathic pulmonary arterial hypertension
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
776
|
24
|
0.100 |
None |
|
0 |
|
|
|
Advanced bone age
|
phenotype |
|
Finding
|
64
|
4
|
0.100 |
None |
|
0 |
|
|
|
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
427
|
32
|
0.100 |
None |
|
0 |
|
|
|
Prominent supraorbital ridges
|
phenotype |
|
Finding
|
41
|
10
|
0.100 |
None |
|
0 |
|
|
|
Loss of subcutaneous adipose tissue in limbs
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Lipoatrophy
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
106
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hyperhidrosis disorder
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
114
|
7
|
0.100 |
None |
|
0 |
|
|
|
Hyperinsulinism
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
620
|
64
|
0.100 |
None |
|
0 |
|
|
|
Hypertriglyceridemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
340
|
169
|
0.100 |
None |
|
0 |
|
|
|
Prolonged QTc Interval, CTCAE
|
phenotype |
|
Finding
|
25
|
|
0.100 |
None |
|
0 |
|
|
|