MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.600 |
None |
1.000 |
2 |
2
|
2008 |
2017 |
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
40
|
31
|
0.500 |
strong |
1.000 |
3 |
|
2008 |
2016 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.310 |
strong |
1.000 |
2 |
|
2009 |
2016 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Increased CSF lactate
|
phenotype |
|
Finding
|
87
|
1
|
0.100 |
None |
|
0 |
|
|
|
Peripheral demyelination
|
phenotype |
Nervous System Diseases
|
Pathologic Function
|
27
|
3
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Pallor of optic disc
|
phenotype |
|
Finding
|
98
|
4
|
0.100 |
None |
|
0 |
|
|
|
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.100 |
None |
|
0 |
|
|
|
Spastic Quadriplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
86
|
7
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture
|
disease |
Musculoskeletal Diseases
|
Finding
|
210
|
32
|
0.100 |
None |
|
0 |
|
|
|
Leukoencephalopathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
189
|
17
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.100 |
None |
|
0 |
|
|
|
Metabolic acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
85
|
|
0.100 |
None |
|
0 |
|
|
|
Poor eye contact
|
phenotype |
Mental Disorders
|
Finding
|
73
|
6
|
0.100 |
None |
|
0 |
|
|
|
Poor head control
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
162
|
13
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Irritability, CTCAE
|
phenotype |
|
Finding
|
140
|
|
0.100 |
None |
|
0 |
|
|
|
Focal T2 hyperintense brainstem lesion
|
phenotype |
|
Finding
|
33
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormal mitochondria in muscle tissue
|
disease |
|
Anatomical Abnormality
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|
Irritation - emotion
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
147
|
14
|
0.100 |
None |
|
0 |
|
|
|
Decreased activity of mitochondrial complex I
|
phenotype |
|
Finding
|
41
|
3
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Neonatal onset
|
phenotype |
|
Finding
|
27
|
|
0.100 |
None |
|
0 |
|
|
|