COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35
|
disease |
|
Disease or Syndrome
|
1
|
5
|
0.600 |
strong |
1.000 |
2 |
5
|
2014 |
2017 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.400 |
strong |
1.000 |
1 |
|
2014 |
2014 |
Condition, Preneoplastic
|
disease |
Neoplasms
|
Neoplastic Process
|
122
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.300 |
strong |
1.000 |
1 |
|
2014 |
2014 |
Precancerous Conditions
|
group |
Neoplasms
|
Neoplastic Process
|
471
|
18
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Large head (disorder)
|
phenotype |
|
Finding
|
64
|
116
|
0.100 |
None |
|
0 |
1
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Muscle Spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
580
|
48
|
0.100 |
None |
|
0 |
|
|
|
Absent speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
232
|
72
|
0.100 |
None |
|
0 |
|
|
|
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
490
|
167
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
|
|
|
Electroencephalogram abnormal
|
phenotype |
Nervous System Diseases
|
Finding
|
227
|
27
|
0.100 |
None |
|
0 |
|
|
|
Esotropia
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
121
|
39
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized myoclonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
105
|
8
|
0.100 |
None |
|
0 |
|
|
|
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.100 |
None |
|
0 |
|
|
|
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.100 |
None |
|
0 |
|
|
|
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.100 |
None |
|
0 |
|
|
|
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.100 |
None |
|
0 |
1
|
|
|
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.060 |
None |
1.000 |
6 |
1
|
2005 |
2017 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.030 |
None |
1.000 |
3 |
|
2017 |
2019 |
Depressive Symptoms
|
phenotype |
Behavior and Behavior Mechanisms
|
Sign or Symptom
|
421
|
120
|
0.030 |
None |
1.000 |
3 |
|
2018 |
2019 |