MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
|
disease |
|
Disease or Syndrome
|
1
|
28
|
0.700 |
None |
1.000 |
10 |
28
|
2001 |
2016 |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.700 |
strong |
1.000 |
1 |
3
|
2012 |
2012 |
Mitochondrial DNA Depletion Syndrome, Myopathic Form
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.500 |
limited |
1.000 |
2 |
|
2008 |
2011 |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.310 |
None |
1.000 |
1 |
|
2012 |
2012 |
Depletion of mitochondrial DNA
|
disease |
|
Disease or Syndrome
|
36
|
7
|
0.200 |
None |
1.000 |
19 |
2
|
2001 |
2015 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.200 |
None |
1.000 |
12 |
2
|
2001 |
2019 |
Mitochondrial Myopathies
|
group |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
121
|
19
|
0.190 |
None |
1.000 |
9 |
1
|
2003 |
2019 |
Chronic progressive external ophthalmoplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
50
|
13
|
0.120 |
None |
1.000 |
2 |
1
|
2003 |
2012 |
Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
320
|
33
|
0.110 |
None |
1.000 |
1 |
|
2002 |
2002 |
Myalgia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
226
|
22
|
0.110 |
None |
1.000 |
1 |
|
2007 |
2007 |
Respiratory Failure
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
23
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Blepharoptosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
595
|
57
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Muscle weakness of limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
42
|
3
|
0.100 |
None |
|
0 |
|
|
|
Loss of ability to walk in early childhood
|
phenotype |
|
Finding
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Respiratory distress
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
259
|
16
|
0.100 |
None |
|
0 |
|
|
|
Facial diplegia
|
phenotype |
Infections; Nervous System Diseases; Stomatognathic Diseases
|
Finding
|
42
|
4
|
0.100 |
None |
|
0 |
|
|
|
Mask-like facies
|
phenotype |
Nervous System Diseases
|
Finding
|
64
|
2
|
0.100 |
None |
|
0 |
|
|
|
Progressive proximal muscle weakness
|
phenotype |
|
Finding
|
28
|
3
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.100 |
None |
|
0 |
|
|
|
Increased serum lactate
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
169
|
2
|
0.100 |
None |
|
0 |
|
|
|
Motor deterioration
|
phenotype |
Mental Disorders
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
|
|
|
Chronic fatigue
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
17
|
2
|
0.100 |
None |
|
0 |
|
|
|
Generalized amyotrophy
|
disease |
|
Disease or Syndrome
|
56
|
6
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|