Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
4
|
2
|
0.700 |
None |
1.000 |
3 |
2
|
2011 |
2017 |
HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.600 |
strong |
1.000 |
1 |
2
|
2017 |
2017 |
Dysequilibrium syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
20
|
1
|
0.320 |
None |
1.000 |
3 |
|
2011 |
2017 |
Congenital Hydrocephalus
|
disease |
Nervous System Diseases
|
Congenital Abnormality
|
39
|
|
0.310 |
limited |
1.000 |
1 |
|
2017 |
2017 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Blood Protein Measurement
|
phenotype |
|
Laboratory Procedure
|
1156
|
2575
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Calcium level result
|
phenotype |
|
Laboratory or Test Result
|
14
|
51
|
0.100 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Calcium measurement
|
phenotype |
|
Laboratory Procedure
|
23
|
71
|
0.100 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Gait Disturbance, CTCAE
|
phenotype |
|
Finding
|
299
|
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
|
|
|
Short foot
|
phenotype |
|
Finding
|
116
|
|
0.100 |
None |
|
0 |
|
|
|
Small hand
|
phenotype |
|
Finding
|
108
|
31
|
0.100 |
None |
|
0 |
|
|
|
Gait abnormality
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
23
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Congenital anomaly of neck
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Ataxia, Truncal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
68
|
13
|
0.100 |
None |
|
0 |
|
|
|
Dysmorphic facies
|
phenotype |
|
Finding
|
271
|
106
|
0.100 |
None |
|
0 |
|
|
|
Neonatal Death
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
27
|
10
|
0.100 |
None |
|
0 |
1
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Thoracic kyphosis
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
21
|
4
|
0.100 |
None |
|
0 |
|
|
|
Short palm
|
phenotype |
|
Finding
|
110
|
13
|
0.100 |
None |
|
0 |
|
|
|
Brain atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
182
|
46
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of vision
|
disease |
|
Finding
|
127
|
8
|
0.100 |
None |
|
0 |
|
|
|