METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.700 |
None |
1.000 |
4 |
6
|
2016 |
2019 |
Hypoglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
420
|
42
|
0.120 |
None |
1.000 |
2 |
2
|
2016 |
2020 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
2 |
2
|
2016 |
2019 |
Episodic metabolic acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
5
|
3
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Muscle fiber atrophy
|
phenotype |
|
Cell or Molecular Dysfunction
|
25
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Myopathic facies
|
phenotype |
|
Finding
|
44
|
15
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Ketotic hypoglycemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
15
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Torsade de Pointes, CTCAE
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Electrocardiogram change
|
phenotype |
|
Finding
|
18
|
27
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Pediatric failure to thrive
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
|
Disease or Syndrome
|
166
|
122
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Brisk reflexes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
31
|
7
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Broad-based gait
|
phenotype |
|
Finding
|
75
|
24
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Gait Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
172
|
17
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
disease |
|
Finding
|
578
|
1158
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Intermittent lactic acidemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
3
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Adolescent idiopathic scoliosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
656
|
1178
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Prolonged QTc interval
|
phenotype |
|
Pathologic Function
|
25
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Acute rhabdomyolysis
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
5
|
2
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Abnormality of lateral ventricle
|
disease |
|
Anatomical Abnormality
|
4
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
613
|
283
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |