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 |
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 |
Dystonia, Primary
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
19
|
5
|
0.030 |
None |
0.667 |
3 |
1
|
2013 |
2017 |
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 |
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 |
Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3177
|
281
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Neuroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2509
|
386
|
0.010 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Henoch-Schoenlein Purpura
|
disease |
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
198
|
59
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
123
|
41
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
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 |
Polymicrogyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
199
|
29
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
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 |
Adult Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2528
|
98
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Childhood Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2527
|
98
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
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 |
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 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
1.000 |
1 |
2
|
2014 |
2014 |