Abdominal wall muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Body mass index
|
phenotype |
|
Clinical Attribute
|
1014
|
2689
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Cardiac Arrhythmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
559
|
111
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
cardiac symptom
|
phenotype |
|
Sign or Symptom
|
9
|
2
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cardiomyocyte hypertrophy
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.130 |
None |
1.000 |
3 |
1
|
2017 |
2020 |
Decreased muscle glycogen content
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased muscle mass
|
phenotype |
|
Finding
|
65
|
12
|
0.100 |
None |
|
0 |
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Difficulty walking
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
224
|
30
|
0.100 |
None |
|
0 |
|
|
|
Disorder of skeletal muscle
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
29
|
10
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Dyspnea on exertion
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
102
|
3
|
0.100 |
None |
|
0 |
|
|
|
EMG: myopathic abnormalities
|
phenotype |
Musculoskeletal Diseases; Nervous System Diseases
|
Pathologic Function
|
115
|
16
|
0.100 |
None |
|
0 |
|
|
|
Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
653
|
1206
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Foot dorsiflexor weakness
|
phenotype |
|
Finding
|
70
|
4
|
0.100 |
None |
|
0 |
|
|
|
Generalized glycogen storage disease of infants
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
51
|
16
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Gerstmann-Straussler-Scheinker Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
Disease or Syndrome
|
56
|
39
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Glycogen Storage Disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
63
|
16
|
0.550 |
limited |
1.000 |
6 |
|
2010 |
2017 |
Glycogen storage disease type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
194
|
269
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
GLYCOGEN STORAGE DISEASE XV
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.710 |
None |
1.000 |
7 |
3
|
2010 |
2020 |
Increased mitochondrial number
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Inverted T wave
|
phenotype |
Cardiovascular Diseases
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Lafora Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
92
|
32
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Limb-girdle muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
41
|
3
|
0.100 |
None |
|
0 |
|
|
|
Limb-girdle myopathy
|
disease |
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |