Slender build
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
31
|
2
|
0.100 |
None |
|
0 |
|
|
|
Difficulty walking up stairs
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
51
|
7
|
0.100 |
None |
|
0 |
|
|
|
Progressive spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
19
|
5
|
0.100 |
None |
|
0 |
|
|
|
Mixed bipolar I disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
7
|
|
0.200 |
None |
|
0 |
|
|
|
Decreased number of large peripheral myelinated nerve fibers
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Ethylmalonic aciduria
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Foot dorsiflexor weakness
|
phenotype |
|
Finding
|
70
|
4
|
0.100 |
None |
|
0 |
|
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
|
disease |
|
Finding
|
2
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Ventricular Arrhythmia, CTCAE 3.0
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Resting Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
57
|
5
|
0.100 |
None |
|
0 |
|
|
|
Action Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
95
|
2
|
0.100 |
None |
|
0 |
|
|
|
Absent reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
201
|
16
|
0.100 |
None |
|
0 |
|
|
|
Intermittent diarrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Hand muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Decreased motor nerve conduction velocity
|
phenotype |
|
Finding
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Muscle fiber necrosis
|
phenotype |
|
Pathologic Function
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
MAJOR AFFECTIVE DISORDER 1
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
161
|
34
|
0.100 |
None |
|
0 |
|
|
|
Impaired distal vibration sensation
|
phenotype |
|
Finding
|
10
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hyper-beta-alaninemia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
33
|
|
0.100 |
None |
|
0 |
|
|
|
Bile duct proliferation
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Micronodular cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Camptocormia
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Acquired Abnormality
|
8
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Voice Fatigue
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
20
|
|
0.100 |
None |
|
0 |
|
|
|