Optic Atrophy, Hereditary, Leber
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
100
|
46
|
0.610 |
None |
1.000 |
2 |
4
|
1993 |
1994 |
MELAS Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
80
|
53
|
0.510 |
None |
1.000 |
1 |
10
|
2008 |
2008 |
Cytochrome-c Oxidase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
65
|
44
|
0.400 |
None |
1.000 |
5 |
9
|
1996 |
2002 |
Epilepsy, Lateral Temporal
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
29
|
1
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Uncinate Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
23
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Epilepsy, Temporal Lobe
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
354
|
33
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Epilepsy, Benign Psychomotor, Childhood
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
23
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Genetic recurrent myoglobinuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
3
|
|
0.300 |
None |
|
0 |
|
|
|
Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
144
|
114
|
0.120 |
None |
1.000 |
3 |
16
|
2000 |
2013 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.110 |
None |
1.000 |
1 |
|
2005 |
2005 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Mitochondrial encephalopathy
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
32
|
8
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
|
disease |
|
Disease or Syndrome
|
4
|
6
|
0.100 |
None |
1.000 |
1 |
1
|
2002 |
2002 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Delayed bone age
|
phenotype |
|
Finding
|
295
|
14
|
0.100 |
None |
|
0 |
|
|
|
Abnormal visual evoked potential
|
phenotype |
Nervous System Diseases
|
Finding
|
55
|
5
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Ventricular preexcitation
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
20
|
2
|
0.100 |
None |
|
0 |
|
|
|
Renal Insufficiency
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
615
|
42
|
0.100 |
None |
|
0 |
|
|
|
Blurred Vision, CTCAE
|
phenotype |
|
Finding
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
Attention deficit hyperactivity disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
842
|
420
|
0.100 |
None |
|
0 |
|
|
|
Cerebral Ischemia
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Pathologic Function
|
120
|
2
|
0.100 |
None |
|
0 |
|
|
|
Forgetful
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
429
|
18
|
0.100 |
None |
|
0 |
|
|
|