Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
1
|
|
|
Motor delay
|
phenotype |
Mental Disorders
|
Finding
|
384
|
34
|
0.100 |
None |
|
0 |
1
|
|
|
Loss of ability to walk
|
phenotype |
|
Finding
|
37
|
11
|
0.100 |
None |
|
0 |
|
|
|
Shoulder girdle muscle atrophy
|
phenotype |
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Facial paralysis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
182
|
3
|
0.100 |
None |
|
0 |
|
|
|
Abnormal palate morphology
|
disease |
|
Finding
|
40
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Axial muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
Diarrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
632
|
63
|
0.100 |
None |
|
0 |
|
|
|
Fatigable weakness of respiratory muscles
|
phenotype |
|
Finding
|
60
|
|
0.100 |
None |
|
0 |
|
|
|
Fatigable weakness of bulbar muscles
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Transitional atrioventricular canal defect
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Reduced systolic function
|
phenotype |
Cardiovascular Diseases
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Neck flexor weakness
|
phenotype |
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Constipation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
424
|
57
|
0.100 |
None |
|
0 |
|
|
|
Areflexia of lower limbs
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
24
|
4
|
0.100 |
None |
|
0 |
|
|
|
EMG: myopathic abnormalities
|
phenotype |
Musculoskeletal Diseases; Nervous System Diseases
|
Pathologic Function
|
115
|
16
|
0.100 |
None |
|
0 |
|
|
|
Ragged-red muscle fibers
|
phenotype |
|
Finding
|
59
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Lordosis
|
phenotype |
Musculoskeletal Diseases
|
Disease or Syndrome
|
160
|
15
|
0.100 |
None |
|
0 |
1
|
|
|
Lipodystrophy
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
226
|
28
|
0.100 |
None |
|
0 |
|
|
|
Sudden Cardiac Death
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
133
|
40
|
0.100 |
None |
|
0 |
|
|
|
Paroxysmal supraventricular tachycardia
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
5
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Cardiomyopathies, Primary
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
108
|
1
|
0.200 |
None |
|
0 |
|
|
|
Left Bundle-Branch Block
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
25
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Myocardial Diseases, Secondary
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
101
|
|
0.200 |
None |
|
0 |
|
|
|
Thoracic kyphoscoliosis
|
phenotype |
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|