Infantile onset spinocerebellar ataxia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
6
|
10
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Upper motor neuron signs
|
phenotype |
|
Sign or Symptom
|
7
|
1
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Facial grimacing
|
phenotype |
|
Finding
|
10
|
2
|
0.100 |
None |
|
0 |
|
|
|
Endotracheal aspiration
|
phenotype |
|
Pathologic Function
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary aspiration
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Aspiration, CTCAE
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Unintentional Material Aspiration
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Micrographia
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Substantia nigra gliosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Ataxic
|
phenotype |
|
Sign or Symptom
|
15
|
4
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Short stepped shuffling gait
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
HUNTINGTON DISEASE-LIKE 2
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
18
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Dysmetric saccades
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Actual Aspiration
|
phenotype |
|
Finding
|
18
|
8
|
0.100 |
None |
|
0 |
|
|
|
Morphological abnormality of the pyramidal tract
|
disease |
|
Anatomical Abnormality
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Multiple System Atrophy
|
phenotype |
Nervous System Diseases
|
Pathologic Function
|
19
|
6
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Voice Fatigue
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
SPINOCEREBELLAR ATAXIA 8
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
21
|
|
0.600 |
None |
1.000 |
18 |
|
2000 |
2019 |
Impaired smooth pursuit
|
phenotype |
|
Finding
|
25
|
1
|
0.100 |
None |
|
0 |
|
|
|
Slowed saccades
|
phenotype |
|
Finding
|
29
|
4
|
0.100 |
None |
|
0 |
|
|
|
Dysarthria, Spastic
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
30
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the pons
|
phenotype |
|
Finding
|
30
|
3
|
0.100 |
None |
|
0 |
|
|
|
Autosomal dominant cerebellar ataxia
|
disease |
|
Disease or Syndrome
|
31
|
2
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2008 |
Cerebellar vermis atrophy
|
phenotype |
|
Finding
|
32
|
6
|
0.100 |
None |
|
0 |
|
|
|
Decreased vibratory sense
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
33
|
8
|
0.100 |
None |
|
0 |
|
|
|