Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.100 |
None |
|
0 |
1
|
|
|
Restrictive deficit on pulmonary function testing
|
phenotype |
Respiratory Tract Diseases
|
Disease or Syndrome
|
16
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Increased serum lactate
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
169
|
2
|
0.100 |
None |
|
0 |
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
|
|
|
Progressive sensorineural hearing impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
78
|
28
|
0.100 |
None |
|
0 |
1
|
|
|
Intermittent lactic acidemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Increased serum alanine
|
phenotype |
|
Finding
|
2
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Exercise-induced myalgia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
37
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Hyperhomocystinemia
|
phenotype |
|
Finding
|
11
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Motheaten muscle fibers
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Reduced brain N-acetyl aspartate level by MRS
|
phenotype |
|
Finding
|
11
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Functional motor deficit
|
phenotype |
|
Finding
|
10
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Neuromuscular dysphagia
|
disease |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
12
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Facial Paresis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
|
Sign or Symptom
|
44
|
2
|
0.100 |
None |
|
0 |
|
|
|
Reduced brain choline level by MRS
|
phenotype |
|
Finding
|
3
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Choreoathetosis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
94
|
9
|
0.100 |
None |
|
0 |
|
|
|
Panic Attacks
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
59
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Migraine with Aura
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
87
|
56
|
0.100 |
None |
|
0 |
1
|
|
|
Trismus
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
18
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Nausea and vomiting
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
257
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Decreased serum ceruloplasmin
|
phenotype |
|
Finding
|
12
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the vasculature
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases
|
Finding
|
4
|
2
|
0.100 |
None |
|
0 |
1
|
|
|