COENZYME Q10 DEFICIENCY, PRIMARY, 1
|
disease |
|
Disease or Syndrome
|
3
|
6
|
0.700 |
None |
1.000 |
13 |
5
|
2006 |
2018 |
MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
|
disease |
|
Finding
|
1
|
4
|
0.600 |
None |
1.000 |
4 |
4
|
2007 |
2016 |
COENZYME Q10 DEFICIENCY
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
21
|
3
|
0.380 |
None |
1.000 |
9 |
3
|
2006 |
2019 |
Striatonigral Degeneration
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
ALPORT SYNDROME 1, X-LINKED
|
disease |
|
Disease or Syndrome
|
2
|
450
|
0.300 |
strong |
|
0 |
|
|
|
Multiple System Atrophy
|
phenotype |
Nervous System Diseases
|
Pathologic Function
|
19
|
6
|
0.300 |
None |
|
0 |
|
|
|
Insulin Resistance
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
162
|
53
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Impaired glucose tolerance
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
596
|
81
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Nephrotic Syndrome
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
384
|
45
|
0.130 |
None |
1.000 |
3 |
|
2006 |
2018 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.110 |
None |
1.000 |
1 |
|
1998 |
1998 |
Parkinsonian Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
373
|
95
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
Episodic vomiting
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
43
|
10
|
0.100 |
None |
|
0 |
|
|
|
Camptocormia
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Acquired Abnormality
|
8
|
2
|
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 |
|
0 |
|
|
|
Primary hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
80
|
6
|
0.100 |
None |
|
0 |
|
|
|
Dysphonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Mental or Behavioral Dysfunction
|
77
|
4
|
0.100 |
None |
|
0 |
|
|
|
Axial dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Increased serum lactate
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
169
|
2
|
0.100 |
None |
|
0 |
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
|
|
|
Severe lactic acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
8
|
1
|
0.100 |
None |
|
0 |
|
|
|
Myoglobinuria, Recurrent
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
2
|
1
|
0.100 |
None |
|
0 |
|
|
|
Simple renal cyst
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
100
|
2
|
0.100 |
None |
|
0 |
|
|
|
Broad-based gait
|
phenotype |
|
Finding
|
75
|
24
|
0.100 |
None |
|
0 |
|
|
|
Frequent falls
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
94
|
4
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, End-Position
|
disease |
|
Disease or Syndrome
|
26
|
2
|
0.100 |
None |
|
0 |
|
|
|