MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.600 |
strong |
1.000 |
3 |
1
|
2017 |
2018 |
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.110 |
None |
1.000 |
2 |
1
|
2017 |
2018 |
Multiple Mitochondrial Dysfunctions Syndrome
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
2
|
0.110 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.100 |
None |
1.000 |
1 |
4
|
2017 |
2017 |
Increased serum lactate
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
169
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Aplasia/Hypoplasia of the corpus callosum
|
phenotype |
|
Finding
|
108
|
8
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
mathematical ability
|
phenotype |
|
Mental Process
|
854
|
2127
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
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
|
2017 |
2017 |
Generalized tonic seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
30
|
3
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Pachygyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
129
|
8
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Microcephaly (physical finding)
|
phenotype |
|
Finding
|
160
|
246
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Muscle Spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
580
|
48
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
427
|
32
|
0.100 |
None |
|
0 |
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
|
|
|
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
Delayed myelination
|
phenotype |
Mental Disorders
|
Finding
|
112
|
6
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.100 |
None |
|
0 |
|
|
|
Hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
539
|
19
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.100 |
None |
|
0 |
|
|
|