LEUKODYSTROPHY, HYPOMYELINATING, 9
|
disease |
|
Disease or Syndrome
|
1
|
8
|
0.700 |
strong |
1.000 |
3 |
8
|
2014 |
2017 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.410 |
None |
1.000 |
2 |
|
2014 |
2020 |
Cerebral hypomyelination
|
phenotype |
|
Finding
|
29
|
6
|
0.400 |
None |
1.000 |
1 |
|
2014 |
2014 |
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.400 |
None |
1.000 |
1 |
|
2014 |
2014 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.400 |
None |
1.000 |
1 |
|
2014 |
2014 |
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.400 |
None |
1.000 |
1 |
|
2014 |
2014 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.400 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.310 |
None |
1.000 |
2 |
|
2014 |
2020 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.120 |
None |
1.000 |
2 |
|
2018 |
2020 |
Muscle Spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
580
|
48
|
0.110 |
None |
1.000 |
1 |
|
2020 |
2020 |
Abnormality of brain morphology
|
phenotype |
|
Anatomical Abnormality
|
104
|
131
|
0.100 |
None |
1.000 |
2 |
1
|
2014 |
2017 |
Lower limb spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
43
|
5
|
0.100 |
None |
|
0 |
|
|
|
Extrapyramidal sign
|
phenotype |
|
Sign or Symptom
|
116
|
7
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar Dysmetria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
127
|
17
|
0.100 |
None |
|
0 |
|
|
|
Increased serum lactate
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
169
|
2
|
0.100 |
None |
|
0 |
|
|
|
Action Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
95
|
2
|
0.100 |
None |
|
0 |
|
|
|
Lower limb hypertonia
|
phenotype |
|
Finding
|
21
|
5
|
0.100 |
None |
|
0 |
|
|
|
Developmental stagnation
|
phenotype |
|
Finding
|
14
|
2
|
0.100 |
None |
|
0 |
|
|
|
Diffuse cerebral atrophy
|
phenotype |
Nervous System Diseases; Mental Disorders
|
Finding
|
34
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hyperintensity of cerebral white matter on MRI
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Seizures, Focal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
210
|
15
|
0.100 |
None |
|
0 |
|
|
|
Difficulty walking
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
224
|
30
|
0.100 |
None |
|
0 |
|
|
|