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 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 |
Tetraplegia/tetraparesis
|
disease |
|
Disease or Syndrome
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Movement abnormality of the tongue
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Sunken cheeks
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal basal ganglia MRI signal intensity
|
phenotype |
|
Anatomical Abnormality
|
7
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Upper limb postural tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormal posture
|
phenotype |
Nervous System Diseases
|
Finding
|
13
|
7
|
0.100 |
None |
1.000 |
1 |
1
|
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 |
Familial Dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
15
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Segmental dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
15
|
9
|
0.010 |
None |
1.000 |
1 |
2
|
2013 |
2013 |
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 |
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 |
Abnormality of the basal ganglia
|
phenotype |
|
Anatomical Abnormality
|
17
|
3
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Dystonia, Primary
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
19
|
5
|
0.030 |
None |
0.667 |
3 |
1
|
2013 |
2017 |
Eunuchoid habitus
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Isovaleryl-CoA dehydrogenase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
22
|
55
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Early onset torsion dystonia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
22
|
1
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Cervical Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
23
|
13
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Dystonia Musculorum Deformans
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
26
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cerebral hypomyelination
|
phenotype |
|
Finding
|
29
|
6
|
0.100 |
None |
1.000 |
1 |
2
|
2014 |
2014 |
Pelizaeus-Merzbacher Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
30
|
30
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Slender build
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
31
|
2
|
0.100 |
None |
|
0 |
|
|
|