MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.600 |
strong |
1.000 |
2 |
2
|
2004 |
2009 |
Lactic acidemia
|
phenotype |
|
Disease or Syndrome
|
12
|
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2019 |
Breathing dysregulation
|
phenotype |
|
Finding
|
12
|
8
|
0.100 |
None |
|
0 |
|
|
|
Hypoventilation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Pathologic Function
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Focal T2 hyperintense brainstem lesion
|
phenotype |
|
Finding
|
33
|
2
|
0.100 |
None |
|
0 |
|
|
|
Proximal tubulopathy
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
37
|
|
0.100 |
None |
|
0 |
|
|
|
Paroxysmal involuntary eye movements
|
phenotype |
|
Finding
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormal mitochondria in muscle tissue
|
disease |
|
Anatomical Abnormality
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
40
|
31
|
0.710 |
None |
1.000 |
6 |
|
2004 |
2016 |
Decreased activity of mitochondrial complex I
|
phenotype |
|
Finding
|
41
|
3
|
0.100 |
None |
|
0 |
|
|
|
Fetal Distress
|
disease |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
44
|
1
|
0.100 |
None |
|
0 |
|
|
|
Increased serum pyruvate
|
phenotype |
|
Finding
|
45
|
1
|
0.100 |
None |
|
0 |
|
|
|
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
|
disease |
|
Disease or Syndrome
|
51
|
4
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2019 |
Poor eye contact
|
phenotype |
Mental Disorders
|
Finding
|
73
|
6
|
0.100 |
None |
|
0 |
|
|
|
Severe muscular hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
75
|
9
|
0.100 |
None |
|
0 |
|
|
|
Increased CSF lactate
|
phenotype |
|
Finding
|
87
|
1
|
0.100 |
None |
|
0 |
|
|
|
Pallor of optic disc
|
phenotype |
|
Finding
|
98
|
4
|
0.100 |
None |
|
0 |
|
|
|
Disorder of the optic nerve
|
group |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
112
|
2
|
0.100 |
None |
|
0 |
|
|
|
Mitochondrial Myopathies
|
group |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
121
|
19
|
0.100 |
None |
|
0 |
|
|
|
Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
144
|
114
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Lethargy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
160
|
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 |
|
|
|
Leukoencephalopathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
189
|
17
|
0.100 |
None |
|
0 |
|
|
|
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.100 |
None |
|
0 |
|
|
|
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.100 |
None |
|
0 |
|
|
|