Mitochondrial Myopathies
|
group |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
121
|
19
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Mitochondrial DNA mutation
|
disease |
|
Congenital Abnormality
|
25
|
7
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.130 |
None |
1.000 |
4 |
2
|
2014 |
2017 |
Micrognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
586
|
53
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Long philtrum
|
phenotype |
|
Finding
|
282
|
16
|
0.100 |
None |
|
0 |
|
|
|
Kyphosis deformity of spine
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
305
|
10
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Increased serum lactate
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
169
|
2
|
0.100 |
None |
|
0 |
|
|
|
Impaired exercise tolerance
|
phenotype |
|
Finding
|
76
|
7
|
0.100 |
None |
|
0 |
|
|
|
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
770
|
198
|
0.100 |
None |
|
0 |
|
|
|
Generalized tonic-clonic seizures with focal onset
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
23
|
1
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2016 |
Generalized myoclonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
105
|
8
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2016 |
Generalized limb muscle atrophy
|
disease |
|
Disease or Syndrome
|
21
|
2
|
0.100 |
None |
|
0 |
|
|
|
Generalized amyotrophy
|
disease |
|
Disease or Syndrome
|
56
|
6
|
0.100 |
None |
|
0 |
|
|
|
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
|
disease |
|
Disease or Syndrome
|
3
|
8
|
0.100 |
None |
1.000 |
3 |
7
|
2007 |
2016 |
Encephalopathy, CTCAE 3.0
|
phenotype |
|
Finding
|
14
|
24
|
0.100 |
None |
|
0 |
1
|
|
|
Electromyogram abnormal
|
phenotype |
|
Finding
|
130
|
12
|
0.100 |
None |
|
0 |
|
|
|
Distichiasis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Anatomical Abnormality
|
10
|
2
|
0.100 |
None |
|
0 |
|
|
|
Delayed Puberty
|
phenotype |
Endocrine System Diseases
|
Pathologic Function
|
196
|
21
|
0.100 |
None |
|
0 |
|
|
|
Deglutition Disorders
|
group |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
389
|
50
|
0.100 |
None |
|
0 |
|
|
|
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.060 |
None |
1.000 |
6 |
|
2006 |
2019 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2016 |