Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.100 |
None |
|
0 |
|
|
|
Hyporeflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital pectus carinatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Congenital Abnormality
|
138
|
26
|
0.100 |
None |
|
0 |
|
|
|
Respiratory arrest
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Pathologic Function
|
12
|
2
|
0.100 |
None |
|
0 |
|
|
|
Proximal muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
112
|
11
|
0.100 |
None |
|
0 |
|
|
|
Waddling gait
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
113
|
8
|
0.100 |
None |
|
0 |
|
|
|
Nasal regurgitation
|
phenotype |
|
Sign or Symptom
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Absent reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
201
|
16
|
0.100 |
None |
|
0 |
|
|
|
Acquired Kyphoscoliosis
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
149
|
2
|
0.100 |
None |
|
0 |
|
|
|
Generalized muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
126
|
4
|
0.100 |
None |
|
0 |
|
|
|
Unilateral Hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
8
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Spinal rigidity
|
phenotype |
|
Finding
|
55
|
3
|
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 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Apneic episodes precipitated by illness, fatigue, stress
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent respiratory infections
|
phenotype |
Infections; Respiratory Tract Diseases
|
Finding
|
318
|
7
|
0.100 |
None |
|
0 |
|
|
|
Intermittent episodes of respiratory insufficiency due to muscle weakness
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Staring gaze
|
phenotype |
|
Finding
|
16
|
1
|
0.100 |
None |
|
0 |
|
|
|
Narrow jaw
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
EMG: myopathic abnormalities
|
phenotype |
Musculoskeletal Diseases; Nervous System Diseases
|
Pathologic Function
|
115
|
16
|
0.100 |
None |
|
0 |
|
|
|
EEG with polyspike wave complexes
|
phenotype |
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
EMG: impaired neuromuscular transmission
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Sudden episodic apnea
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Disease or Syndrome
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Bulbar palsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
48
|
5
|
0.100 |
None |
|
0 |
|
|
|
Choking episodes
|
phenotype |
|
Pathologic Function
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|