PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
|
phenotype |
|
Finding
|
1
|
13
|
0.700 |
None |
1.000 |
5 |
13
|
2008 |
2015 |
LEBER CONGENITAL AMAUROSIS 16
|
disease |
|
Disease or Syndrome
|
2
|
5
|
0.100 |
None |
|
0 |
5
|
|
|
Monotonic speech
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Spastic/hyperactive bladder
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Low frustration tolerance
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Snowflake vitreoretinal degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
15
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Orthostatic hypotension due to autonomic dysfunction
|
phenotype |
Nervous System Diseases; Cardiovascular Diseases
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Parkinsonism with favorable response to dopaminergic medication
|
phenotype |
Nervous System Diseases
|
Finding
|
21
|
2
|
0.100 |
None |
|
0 |
|
|
|
Gait, Shuffling
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Expressionless face
|
phenotype |
Nervous System Diseases
|
Finding
|
31
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hallucinations, Visual
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
39
|
5
|
0.100 |
None |
|
0 |
|
|
|
Akinesia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
43
|
3
|
0.100 |
None |
|
0 |
|
|
|
Chronic constipation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
47
|
16
|
0.100 |
None |
|
0 |
|
|
|
Resting Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
57
|
5
|
0.100 |
None |
|
0 |
|
|
|
Sense of smell impaired
|
phenotype |
Nervous System Diseases
|
Sign or Symptom
|
60
|
12
|
0.110 |
None |
1.000 |
1 |
|
2008 |
2008 |
Postural instability
|
phenotype |
Nervous System Diseases
|
Finding
|
60
|
5
|
0.100 |
None |
|
0 |
|
|
|
Diplopia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
75
|
5
|
0.100 |
None |
|
0 |
|
|
|
Apathy
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
83
|
9
|
0.100 |
None |
|
0 |
|
|
|
Leber Congenital Amaurosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
83
|
109
|
0.100 |
None |
|
0 |
1
|
|
|
Agitation, CTCAE 3.0
|
phenotype |
|
Finding
|
87
|
|
0.100 |
None |
|
0 |
|
|
|
Agitation, CTCAE 5.0
|
phenotype |
|
Finding
|
87
|
|
0.100 |
None |
|
0 |
|
|
|
Frequent falls
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
94
|
4
|
0.100 |
None |
|
0 |
|
|
|
Gliosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
102
|
3
|
0.100 |
None |
|
0 |
|
|
|
Agitation
|
phenotype |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
109
|
4
|
0.100 |
None |
|
0 |
|
|
|
Bradykinesia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
133
|
16
|
0.100 |
None |
|
0 |
|
|
|