Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
20 |
1
|
2002 |
2017 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
20 |
2
|
2002 |
2017 |
Leukodystrophy, Hypomyelinating, 6
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
28
|
0.600 |
None |
1.000 |
20 |
28
|
2013 |
2018 |
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.500 |
None |
1.000 |
15 |
1
|
2011 |
2018 |
Dystonia Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
167
|
37
|
0.100 |
None |
1.000 |
13 |
|
2011 |
2018 |
Dysphonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Mental or Behavioral Dysfunction
|
77
|
4
|
0.170 |
None |
1.000 |
7 |
1
|
2011 |
2018 |
Hoarseness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Sign or Symptom
|
84
|
3
|
0.070 |
None |
1.000 |
7 |
1
|
2011 |
2018 |
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
2
|
4
|
0.720 |
None |
1.000 |
7 |
4
|
2013 |
2017 |
Whispering dysphonia, hereditary
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
2
|
|
0.620 |
None |
1.000 |
5 |
|
2013 |
2016 |
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.140 |
None |
1.000 |
4 |
|
2014 |
2018 |
Dystonia, Primary
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
19
|
5
|
0.030 |
None |
0.667 |
3 |
1
|
2013 |
2017 |
Leukoencephalopathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
189
|
17
|
0.030 |
None |
0.667 |
3 |
|
2013 |
2014 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.130 |
None |
1.000 |
3 |
|
2012 |
2019 |
Bone Cysts, Aneurysmal
|
disease |
Neoplasms; Musculoskeletal Diseases
|
Disease or Syndrome
|
79
|
5
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2015 |
Laryngeal dystonia
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
17
|
2
|
0.120 |
None |
1.000 |
2 |
2
|
2013 |
2016 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2015 |
Cerebellar vermis atrophy
|
phenotype |
|
Finding
|
32
|
6
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Complicated hereditary spastic paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
16
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Spastic Quadriplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
86
|
7
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Central neuroblastoma
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
2419
|
231
|
0.010 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Mental impairment
|
disease |
|
Mental or Behavioral Dysfunction
|
67
|
14
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Progressive Neoplastic Disease
|
phenotype |
|
Neoplastic Process
|
384
|
40
|
0.010 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Cortical Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
118
|
6
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
393
|
2
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |