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, 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 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.400 |
None |
1.000 |
1 |
|
2015 |
2015 |
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 |
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 |
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 |
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 |
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 |
Gait Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
172
|
17
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
20 |
2
|
2002 |
2017 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
20 |
1
|
2002 |
2017 |
Dystonia Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
167
|
37
|
0.100 |
None |
1.000 |
13 |
|
2011 |
2018 |
Muscle Hypertonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
197
|
21
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Cerebellar vermis atrophy
|
phenotype |
|
Finding
|
32
|
6
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
1.000 |
1 |
2
|
2014 |
2014 |
Kinetic tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
13
|
5
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Central hypotonia
|
phenotype |
|
Finding
|
50
|
25
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Dysarthria
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
487
|
54
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Abnormality of the basal ganglia
|
phenotype |
|
Anatomical Abnormality
|
17
|
3
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Cerebral hypomyelination
|
phenotype |
|
Finding
|
29
|
6
|
0.100 |
None |
1.000 |
1 |
2
|
2014 |
2014 |
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |