SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
32
|
0.900 |
None |
1.000 |
16 |
32
|
2008 |
2019 |
COENZYME Q10 DEFICIENCY, PRIMARY, 1
|
disease |
|
Disease or Syndrome
|
3
|
6
|
0.600 |
strong |
1.000 |
1 |
1
|
2008 |
2008 |
COENZYME Q10 DEFICIENCY
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
21
|
3
|
0.330 |
strong |
1.000 |
5 |
|
2008 |
2018 |
Inherited neuropathies
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
104
|
4
|
0.300 |
None |
|
0 |
|
|
|
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.150 |
None |
1.000 |
5 |
2
|
2008 |
2019 |
Progressive cerebellar ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
136
|
23
|
0.140 |
None |
1.000 |
4 |
|
2010 |
2020 |
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.120 |
None |
1.000 |
2 |
|
2017 |
2019 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.110 |
None |
1.000 |
1 |
|
2008 |
2008 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.100 |
None |
1.000 |
10 |
1
|
2008 |
2019 |
Anxiety
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1048
|
287
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Neutrophil count (procedure)
|
phenotype |
|
Laboratory Procedure
|
145
|
234
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Granulocyte count
|
phenotype |
|
Laboratory Procedure
|
100
|
150
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Eosinophil count procedure
|
phenotype |
|
Laboratory Procedure
|
610
|
1144
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Blood basophil count (lab test)
|
phenotype |
|
Laboratory Procedure
|
272
|
452
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
mathematical ability
|
phenotype |
|
Mental Process
|
854
|
2127
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Glomerular Filtration Rate
|
phenotype |
|
Diagnostic Procedure
|
399
|
1033
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Impaired exercise tolerance
|
phenotype |
|
Finding
|
76
|
7
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
1
|
|
|
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.100 |
None |
|
0 |
1
|
|
|
Electromyogram abnormal
|
phenotype |
|
Finding
|
130
|
12
|
0.100 |
None |
|
0 |
|
|
|
Increased CSF lactate
|
phenotype |
|
Finding
|
87
|
1
|
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 |
|
|
|
Focal T2 hypointense basal ganglia lesion
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Neurodevelopmental delay
|
phenotype |
|
Finding
|
39
|
24
|
0.100 |
None |
|
0 |
|
|
|
Increased intramyocellular lipid droplets
|
phenotype |
|
Finding
|
27
|
|
0.100 |
None |
|
0 |
|
|
|