MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
|
disease |
|
Disease or Syndrome
|
1
|
14
|
0.700 |
None |
1.000 |
8 |
14
|
2007 |
2016 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
3
|
0.600 |
None |
1.000 |
3 |
3
|
2015 |
2016 |
Mitochondrial Myopathies
|
group |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
121
|
19
|
0.400 |
None |
1.000 |
2 |
|
2007 |
2009 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.400 |
strong |
1.000 |
1 |
|
2011 |
2011 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.400 |
None |
1.000 |
1 |
|
2009 |
2009 |
MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE)
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.400 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.400 |
moderate |
1.000 |
1 |
|
2007 |
2007 |
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.400 |
None |
1.000 |
1 |
|
2009 |
2009 |
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
|
disease |
|
Disease or Syndrome
|
4
|
2
|
0.310 |
None |
1.000 |
1 |
|
2009 |
2009 |
Kearns-Sayre syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
29
|
5
|
0.310 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Megaconial Myopathies
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
10
|
|
0.300 |
None |
1.000 |
2 |
|
2007 |
2009 |
Pleoconial Myopathies
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
|
0.300 |
None |
1.000 |
2 |
|
2007 |
2009 |
Luft Disease
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
|
0.300 |
None |
1.000 |
2 |
|
2007 |
2009 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
13
|
0.300 |
None |
1.000 |
2 |
|
2009 |
2011 |
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Floppy Muscles
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Unilateral Hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
8
|
1
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Flaccid Muscle Tone
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
16
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Neonatal Hypotonia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
169
|
45
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Status Epilepticus
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
533
|
12
|
0.300 |
moderate |
1.000 |
1 |
|
2007 |
2007 |
Visceral myopathy familial external ophthalmoplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Muscle Tone Atonic
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.150 |
None |
1.000 |
6 |
2
|
2007 |
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
|
0.130 |
None |
1.000 |
3 |
|
2009 |
2016 |