Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
MAJOR AFFECTIVE DISORDER 4
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
160
|
34
|
0.110 |
None |
1.000 |
1 |
|
2003 |
2003 |
MAJOR AFFECTIVE DISORDER 6
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
160
|
34
|
0.110 |
None |
1.000 |
1 |
|
2003 |
2003 |
MAJOR AFFECTIVE DISORDER 7
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
127
|
8
|
0.110 |
None |
1.000 |
1 |
|
2003 |
2003 |
MAJOR AFFECTIVE DISORDER 8
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
126
|
8
|
0.110 |
None |
1.000 |
1 |
|
2003 |
2003 |
Cardiomyopathy, Dilated
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
512
|
509
|
0.110 |
None |
1.000 |
1 |
|
2006 |
2006 |
MAJOR AFFECTIVE DISORDER 9
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
126
|
8
|
0.110 |
None |
1.000 |
1 |
|
2003 |
2003 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Electroretinogram abnormal
|
phenotype |
|
Finding
|
158
|
10
|
0.100 |
None |
|
0 |
|
|
|
Reflex, Ankle, Absent
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
33
|
5
|
0.100 |
None |
|
0 |
|
|
|
Quadriceps weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
|
|
|
Subsarcolemmal accumulations of abnormally shaped mitochondria
|
disease |
|
Anatomical Abnormality
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Focal white matter lesions
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
14
|
2
|
0.100 |
None |
|
0 |
|
|
|
Expressionless face
|
phenotype |
Nervous System Diseases
|
Finding
|
31
|
1
|
0.100 |
None |
|
0 |
|
|
|
Frequent falls
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
94
|
4
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the mitochondrion
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Dyspnea on exertion
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
102
|
3
|
0.100 |
None |
|
0 |
|
|
|
Shoulder girdle weakness
|
phenotype |
|
Finding
|
39
|
4
|
0.100 |
None |
|
0 |
|
|
|
Bradykinesia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
133
|
16
|
0.100 |
None |
|
0 |
|
|
|
Generalized Muscle Weakness, CTCAE
|
phenotype |
|
Finding
|
117
|
|
0.100 |
None |
|
0 |
|
|
|
Resting Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
57
|
5
|
0.100 |
None |
|
0 |
|
|
|
Difficulty walking up stairs
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
51
|
7
|
0.100 |
None |
|
0 |
|
|
|
Cortical visual impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Pathologic Function
|
136
|
27
|
0.100 |
None |
|
0 |
|
|
|