Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.440 |
moderate |
1.000 |
5 |
|
2013 |
2019 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.630 |
None |
1.000 |
3 |
3
|
2012 |
2019 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |
Congenital cerebellar ataxia
|
disease |
|
Disease or Syndrome
|
8
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Autosomal dominant cerebellar ataxia
|
disease |
|
Disease or Syndrome
|
31
|
2
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Nystagmus, End-Position
|
disease |
|
Disease or Syndrome
|
26
|
2
|
0.100 |
None |
|
0 |
|
|
|
Dysmetric saccades
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Impaired smooth pursuit
|
phenotype |
|
Finding
|
25
|
1
|
0.100 |
None |
|
0 |
|
|
|
Upper motor neuron dysfunction
|
phenotype |
|
Pathologic Function
|
16
|
1
|
0.100 |
None |
|
0 |
|
|
|
Jerky ocular pursuit movements
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Slow progression
|
phenotype |
|
Finding
|
165
|
|
0.100 |
None |
|
0 |
|
|
|
Gait Disturbance, CTCAE
|
phenotype |
|
Finding
|
299
|
|
0.100 |
None |
|
0 |
|
|
|
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
910
|
121
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Cardiac Arrest
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
411
|
50
|
0.060 |
None |
1.000 |
6 |
|
2004 |
2019 |
Schwartz-Jampel Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
77
|
12
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
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 |
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 |
Infantile onset spinocerebellar ataxia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
6
|
10
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2019 |
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 |
Spectrin-associated autosomal recessive cerebellar ataxia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2017 |
Machado-Joseph Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
135
|
12
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Spinocerebellar Degeneration
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
14
|
1
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Cerebellar degeneration
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
60
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |