Foot dorsiflexor weakness
|
phenotype |
|
Finding
|
70
|
4
|
0.100 |
None |
|
0 |
|
|
|
Bilateral ptosis
|
phenotype |
Eye Diseases
|
Finding
|
50
|
14
|
0.100 |
None |
|
0 |
1
|
|
|
Spinal rigidity
|
phenotype |
|
Finding
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.100 |
None |
|
0 |
|
|
|
Scapuloperoneal weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Poor suck
|
phenotype |
|
Finding
|
103
|
31
|
0.100 |
None |
|
0 |
1
|
|
|
Peroneal muscle atrophy
|
disease |
|
Disease or Syndrome
|
10
|
2
|
0.100 |
None |
|
0 |
|
|
|
Difficulty walking
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
224
|
30
|
0.100 |
None |
|
0 |
|
|
|
Lipoatrophy
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
106
|
6
|
0.100 |
None |
|
0 |
|
|
|
Facial Paresis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
|
Sign or Symptom
|
44
|
2
|
0.100 |
None |
|
0 |
|
|
|
Distal muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
117
|
16
|
0.100 |
None |
|
0 |
|
|
|
Neutrophil abnormality
|
phenotype |
|
Finding
|
74
|
1
|
0.100 |
None |
|
0 |
|
|
|
Supraventricular arrhythmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
19
|
2
|
0.100 |
None |
|
0 |
|
|
|
Supraventricular Arrhythmia by ECG Finding
|
phenotype |
|
Laboratory or Test Result
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Keratoderma, Palmoplantar
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
165
|
19
|
0.100 |
None |
|
0 |
|
|
|
Electromyogram abnormal
|
phenotype |
|
Finding
|
130
|
12
|
0.100 |
None |
|
0 |
|
|
|
Electrocardiogram abnormal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
11
|
54
|
0.100 |
None |
|
0 |
1
|
|
|
Ophthalmoparesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
61
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
1
|
|
|
Cardiomyopathy, Hypertrophic, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
83
|
355
|
0.100 |
None |
|
0 |
1
|
|
|
Respiratory insufficiency due to muscle weakness
|
phenotype |
Respiratory Tract Diseases
|
Finding
|
85
|
3
|
0.100 |
None |
|
0 |
|
|
|
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.100 |
None |
|
0 |
|
|
|
Late-onset proximal muscle weakness
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
CARDIOMYOPATHY, DILATED, 1S
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
9
|
53
|
0.100 |
None |
|
0 |
3
|
|
|
Hyporeflexia of lower limbs
|
phenotype |
|
Finding
|
19
|
1
|
0.100 |
None |
|
0 |
|
|
|