Spinocerebellar Ataxia Type 5
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
7
|
1.000 |
None |
0.938 |
16 |
5
|
2006 |
2019 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.630 |
None |
1.000 |
3 |
3
|
2012 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.440 |
moderate |
1.000 |
5 |
|
2013 |
2019 |
Ataxia, Spinocerebellar
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
156
|
4
|
0.340 |
None |
1.000 |
4 |
|
2006 |
2019 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.310 |
None |
1.000 |
1 |
|
2008 |
2008 |
Spinocerebellar ataxia 14
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
7
|
29
|
0.300 |
None |
1.000 |
2 |
|
2017 |
2018 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.300 |
moderate |
1.000 |
1 |
|
2017 |
2017 |
Inherited neuropathies
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
104
|
4
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Spinocerebellar Ataxia Type 7
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
78
|
2
|
0.300 |
None |
|
0 |
|
|
|
Spinocerebellar Ataxia Type 4
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
36
|
|
0.300 |
None |
|
0 |
|
|
|
Spinocerebellar Ataxia Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
76
|
3
|
0.300 |
None |
|
0 |
|
|
|
Spinocerebellar Ataxia Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
102
|
4
|
0.300 |
None |
|
0 |
|
|
|
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.300 |
None |
|
0 |
|
|
|
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 |
|
|
|
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.170 |
None |
1.000 |
7 |
2
|
2006 |
2018 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.140 |
None |
0.750 |
4 |
|
2012 |
2020 |
Progressive cerebellar ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
136
|
23
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |
Facial Myokymia
|
phenotype |
Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
5
|
1
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.100 |
None |
1.000 |
10 |
2
|
2006 |
2020 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
8 |
1
|
2006 |
2017 |
Upper motor neuron dysfunction
|
phenotype |
|
Pathologic Function
|
16
|
1
|
0.100 |
None |
|
0 |
|
|
|
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.100 |
None |
|
0 |
|
|
|
Ataxia, Truncal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
68
|
13
|
0.100 |
None |
|
0 |
|
|
|
Decreased vibratory sense
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
33
|
8
|
0.100 |
None |
|
0 |
|
|
|