NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.600 |
strong |
|
0 |
3
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Hallucinations
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
178
|
18
|
0.100 |
None |
|
0 |
|
|
|
Psychotic Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
560
|
179
|
0.100 |
None |
|
0 |
|
|
|
Quadriparesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
42
|
5
|
0.100 |
None |
|
0 |
|
|
|
Supranuclear gaze palsy
|
phenotype |
|
Finding
|
19
|
1
|
0.100 |
None |
|
0 |
|
|
|
Oculovestibuloauditory syndrome
|
disease |
Eye Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
87
|
3
|
0.100 |
None |
|
0 |
|
|
|
Ptosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
607
|
12
|
0.100 |
None |
|
0 |
|
|
|
Loss of speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
37
|
8
|
0.100 |
None |
|
0 |
|
|
|
Forgetful
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
429
|
18
|
0.100 |
None |
|
0 |
|
|
|
Generalized amyotrophy
|
disease |
|
Disease or Syndrome
|
56
|
6
|
0.100 |
None |
|
0 |
|
|
|
Reflex, Ankle, Absent
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
33
|
5
|
0.100 |
None |
|
0 |
|
|
|
Irritable Mood
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
142
|
1
|
0.100 |
None |
|
0 |
|
|
|
Gait abnormality
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
23
|
0.100 |
None |
|
0 |
|
|
|
Gliosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
102
|
3
|
0.100 |
None |
|
0 |
|
|
|
Stereotypic Movement Disorder
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
192
|
26
|
0.100 |
None |
|
0 |
|
|
|
Hyperorality
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Rimmed vacuoles on biopsy
|
phenotype |
|
Finding
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Neuronal loss in the cerebral cortex
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Poor speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
208
|
9
|
0.100 |
None |
|
0 |
|
|
|
Degeneration of the lateral corticospinal tracts
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Facial paralysis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
182
|
3
|
0.100 |
None |
|
0 |
|
|
|
Muscular fasciculation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
99
|
2
|
0.100 |
None |
|
0 |
|
|
|
Fatigue
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
760
|
67
|
0.100 |
None |
|
0 |
|
|
|
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
|
0 |
|
|
|