Hand clenching
|
phenotype |
|
Finding
|
26
|
9
|
0.100 |
None |
|
0 |
1
|
|
|
Round face
|
phenotype |
|
Finding
|
88
|
3
|
0.100 |
None |
|
0 |
|
|
|
ST segment elevation (finding)
|
phenotype |
Cardiovascular Diseases
|
Finding
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
1
|
|
|
Thin lips
|
phenotype |
|
Finding
|
99
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Trifascicular block
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Prolonged QT interval
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
38
|
12
|
0.100 |
None |
|
0 |
|
|
|
Electrocardiogram change
|
phenotype |
|
Finding
|
18
|
27
|
0.100 |
None |
|
0 |
2
|
|
|
Photophobia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
227
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Right bundle branch block
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
39
|
|
0.100 |
None |
|
0 |
|
|
|
First degree atrioventricular block
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Ventricular arrhythmia
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
176
|
37
|
0.100 |
None |
|
0 |
1
|
|
|
Cutaneous syndactyly
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
17
|
1
|
0.100 |
None |
|
0 |
|
|
|
Thin upper lip vermilion
|
phenotype |
|
Finding
|
211
|
25
|
0.100 |
None |
|
0 |
|
|
|
Ventricular Arrhythmia, CTCAE 3.0
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of dental enamel
|
group |
|
Anatomical Abnormality
|
96
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Deglutition Disorders
|
group |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
389
|
50
|
0.100 |
None |
|
0 |
1
|
|
|
Sudden death
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
30
|
3
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of mitochondrial metabolism
|
phenotype |
|
Finding
|
21
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
J wave
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Infantile Spasm
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
93
|
39
|
0.100 |
None |
|
0 |
1
|
|
|
Breathing dysregulation
|
phenotype |
|
Finding
|
12
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
AV Block First Degree by ECG Finding
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
Constipation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
424
|
57
|
0.100 |
None |
|
0 |
1
|
|
|
EEG with photoparoxysmal response
|
phenotype |
|
Finding
|
3
|
1
|
0.100 |
None |
|
0 |
1
|
|
|