Cardiomyocyte hypertrophy
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Neck flexor weakness
|
phenotype |
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased muscle mass
|
phenotype |
|
Finding
|
65
|
12
|
0.100 |
None |
|
0 |
|
|
|
Muscle Weakness Upper Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
29
|
3
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Inverted T wave
|
phenotype |
Cardiovascular Diseases
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
ST segment elevation (finding)
|
phenotype |
Cardiovascular Diseases
|
Finding
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Shoulder girdle weakness
|
phenotype |
|
Finding
|
39
|
4
|
0.100 |
None |
|
0 |
|
|
|
Ventricular septal hypertrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
8
|
3
|
0.100 |
None |
|
0 |
|
|
|
Slow progression
|
phenotype |
|
Finding
|
165
|
|
0.100 |
None |
|
0 |
|
|
|
Limb-girdle muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
41
|
3
|
0.100 |
None |
|
0 |
|
|
|
Decreased muscle glycogen content
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Increased mitochondrial number
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
EMG: myopathic abnormalities
|
phenotype |
Musculoskeletal Diseases; Nervous System Diseases
|
Pathologic Function
|
115
|
16
|
0.100 |
None |
|
0 |
|
|
|
Abdominal wall muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Palpitations, CTCAE
|
phenotype |
|
Finding
|
64
|
|
0.100 |
None |
|
0 |
|
|
|
Ventricular Arrhythmia, CTCAE 3.0
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Foot dorsiflexor weakness
|
phenotype |
|
Finding
|
70
|
4
|
0.100 |
None |
|
0 |
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Ventricular Arrhythmia by ECG Finding
|
phenotype |
|
Laboratory or Test Result
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Ventricular hypertrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
60
|
9
|
0.100 |
None |
|
0 |
|
|
|
Palpitations
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
|
Finding
|
70
|
7
|
0.100 |
None |
|
0 |
|
|
|
Ventricular Arrhythmia, CTCAE 5.0
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Ventricular arrhythmia
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
176
|
37
|
0.100 |
None |
|
0 |
|
|
|
Tachycardia, Ventricular
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
104
|
31
|
0.100 |
None |
|
0 |
|
|
|