Ataxia, Truncal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
68
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
|
0 |
1
|
|
|
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
|
|
|
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.100 |
None |
|
0 |
|
|
|
Ataxia, Appendicular
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
86
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Oculogyric crisis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Pathologic Function
|
9
|
3
|
0.100 |
None |
|
0 |
3
|
|
|
Mood swings
|
disease |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
171
|
1
|
0.100 |
None |
|
0 |
|
|
|
Gait Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
172
|
17
|
0.100 |
None |
|
0 |
|
|
|
Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
528
|
52
|
0.100 |
None |
|
0 |
1
|
|
|
Torticollis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
55
|
10
|
0.100 |
None |
|
0 |
|
|
|
Status Epilepticus
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
533
|
12
|
0.100 |
None |
|
0 |
3
|
|
|
Expressionless face
|
phenotype |
Nervous System Diseases
|
Finding
|
31
|
1
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
|
|
|
Autistic behavior
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
261
|
78
|
0.100 |
None |
|
0 |
|
|
|
Episodic Ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
36
|
9
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Mutism
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
47
|
4
|
0.100 |
None |
|
0 |
|
|
|
Abnormal coordination
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
59
|
4
|
0.100 |
None |
|
0 |
|
|
|
Abnormal ocular motility
|
phenotype |
|
Finding
|
45
|
6
|
0.100 |
None |
|
0 |
|
|
|
Cafe-au-Lait Spots
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
74
|
32
|
0.100 |
None |
|
0 |
1
|
|
|
Quadriparesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
42
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Taurodontism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Disease or Syndrome
|
40
|
10
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of the dentition
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Finding
|
140
|
16
|
0.100 |
None |
|
0 |
1
|
|
|
Sagittal craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
35
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
2
|
|
|