Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
12
|
0.950 |
None |
1.000 |
10 |
12
|
2008 |
2020 |
Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
123
|
41
|
0.570 |
strong |
1.000 |
9 |
|
2010 |
2019 |
Fatty Acid Hydroxylase-Associated Neurodegeneration
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.530 |
None |
1.000 |
5 |
|
2008 |
2020 |
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.430 |
None |
1.000 |
3 |
1
|
2008 |
2019 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.400 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.310 |
strong |
1.000 |
2 |
|
2013 |
2019 |
Paraparesis, Spastic
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
75
|
37
|
0.120 |
None |
1.000 |
2 |
|
2008 |
2011 |
Spastic Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
144
|
93
|
0.120 |
None |
1.000 |
2 |
1
|
2011 |
2012 |
Progressive spastic paraparesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
14
|
3
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Muscle Spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
580
|
48
|
0.110 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
385
|
49
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Supranuclear gaze palsy
|
phenotype |
|
Finding
|
19
|
1
|
0.100 |
None |
|
0 |
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
1
|
|
|
Peripheral demyelination
|
phenotype |
Nervous System Diseases
|
Pathologic Function
|
27
|
3
|
0.100 |
None |
|
0 |
|
|
|
MAJOR AFFECTIVE DISORDER 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders
|
Mental or Behavioral Dysfunction
|
185
|
34
|
0.100 |
None |
|
0 |
|
|
|
Progressive gait ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
21
|
3
|
0.100 |
None |
|
0 |
|
|
|
Lower limb hypertonia
|
phenotype |
|
Finding
|
21
|
5
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Atrophy of the spinal cord
|
disease |
|
Disease or Syndrome
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Hip Dysplasia
|
disease |
Musculoskeletal Diseases; Wounds and Injuries
|
Anatomical Abnormality
|
128
|
16
|
0.100 |
None |
|
0 |
1
|
|
|
Lower limb spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
43
|
5
|
0.100 |
None |
|
0 |
|
|
|
Mask-like facies
|
phenotype |
Nervous System Diseases
|
Finding
|
64
|
2
|
0.100 |
None |
|
0 |
|
|
|
Atrophy of corpus callosum
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
21
|
2
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
1
|
|
|
Tonic - clonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
300
|
32
|
0.100 |
None |
|
0 |
|
|
|