SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
|
disease |
|
Disease or Syndrome
|
2
|
11
|
0.730 |
None |
1.000 |
4 |
11
|
2010 |
2019 |
Non-Hodgkin's lymphoma of central nervous system
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
3
|
5
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Downbeat nystagmus
|
phenotype |
Eye Diseases; Nervous System Diseases
|
Finding
|
3
|
2
|
0.100 |
None |
|
0 |
|
|
|
Tortuosity of conjunctival vessels
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Borrelia Infections
|
group |
Infections
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hypermetric saccades
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Spinocerebellar Ataxia 10
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
9
|
|
0.020 |
None |
1.000 |
2 |
|
2019 |
2019 |
Abnormal enzyme/coenzyme activity
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Leg muscle stiffness
|
phenotype |
|
Sign or Symptom
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Scott Syndrome
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
15
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Dysmetric saccades
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
COENZYME Q10 DEFICIENCY
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
21
|
3
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Progressive gait ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
21
|
3
|
0.100 |
None |
|
0 |
|
|
|
Saccadic smooth pursuit
|
phenotype |
|
Finding
|
22
|
5
|
0.100 |
None |
|
0 |
|
|
|
Porencephalic cyst
|
disease |
|
Disease or Syndrome
|
28
|
2
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Brisk reflexes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
31
|
7
|
0.100 |
None |
|
0 |
|
|
|
Ankle clonus
|
phenotype |
|
Finding
|
32
|
5
|
0.100 |
None |
|
0 |
|
|
|
Acquired porencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
34
|
3
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Spinocerebellar Ataxia Type 4
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
36
|
|
0.300 |
None |
|
0 |
|
|
|
Slurred speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
39
|
10
|
0.100 |
None |
|
0 |
|
|
|
Triglyceride storage disease with ichthyosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
41
|
8
|
0.100 |
None |
|
0 |
2
|
|
|
Horizontal Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
48
|
11
|
0.100 |
None |
|
0 |
|
|
|
Spinocerebellar Ataxia Type 5
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
7
|
0.300 |
None |
|
0 |
|
|
|
Static Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
62
|
3
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Spinocerebellar Ataxia Type 6 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
64
|
11
|
0.300 |
None |
|
0 |
|
|
|