MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.400 |
None |
1.000 |
3 |
3
|
2001 |
2010 |
Encephalomyelopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Leber plus disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
2
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
LEBER OPTIC ATROPHY AND DYSTONIA
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Maternally Inherited Leigh Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
12
|
1
|
0.310 |
None |
1.000 |
3 |
|
2005 |
2012 |
Abnormality of Krebs cycle metabolism
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Multiple glomerular cysts
|
phenotype |
|
Pathologic Function
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Lacticaciduria
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Low plasma citrulline
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Epilepsia Partialis Continua
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
15
|
1
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2017 |
Abnormal speech prosody
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Cardiac conduction abnormality
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Segmental peripheral demyelination/remyelination
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Episodic respiratory distress
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Mitochondrial DNA mutation
|
disease |
|
Congenital Abnormality
|
25
|
7
|
0.030 |
None |
1.000 |
3 |
|
2001 |
2007 |
Hyperventilation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
31
|
2
|
0.100 |
None |
|
0 |
|
|
|
Mitochondrial encephalopathy
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
32
|
8
|
0.010 |
None |
1.000 |
1 |
1
|
2004 |
2004 |
Hyper-beta-alaninemia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
33
|
|
0.100 |
None |
|
0 |
|
|
|
Bulbar signs
|
phenotype |
|
Finding
|
33
|
1
|
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
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Decreased activity of mitochondrial complex I
|
phenotype |
|
Finding
|
41
|
3
|
0.100 |
None |
|
0 |
|
|
|