Thoracic aorta calcification
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
AV Block First Degree by ECG Finding
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of metabolism/homeostasis
|
phenotype |
|
Finding
|
171
|
5
|
0.100 |
None |
|
0 |
|
|
|
Abnormal nasal morphology
|
disease |
|
Anatomical Abnormality
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of chromosome segregation
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
284
|
39
|
0.100 |
None |
|
0 |
|
|
|
Broad forehead
|
phenotype |
|
Finding
|
133
|
13
|
0.100 |
None |
|
0 |
|
|
|
Intellectual disability, progressive
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Finding
|
45
|
1
|
0.100 |
None |
|
0 |
|
|
|
Thin lips
|
phenotype |
|
Finding
|
99
|
8
|
0.100 |
None |
|
0 |
|
|
|
Prolonged PR interval
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Aneurysm of aortic arch
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Hypersomnia
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
70
|
7
|
0.100 |
None |
|
0 |
|
|
|
Congenital exomphalos
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
235
|
|
0.100 |
None |
|
0 |
|
|
|
Atrioventricular Septal Defect
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
58
|
19
|
0.100 |
None |
|
0 |
1
|
|
|
Ascending aortic dissection
|
phenotype |
Cardiovascular Diseases
|
Disease or Syndrome
|
25
|
1
|
0.100 |
None |
|
0 |
|
|
|
Coarse facial features
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
194
|
33
|
0.100 |
None |
|
0 |
|
|
|
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.300 |
limited |
|
0 |
|
|
|
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
725
|
80
|
0.100 |
None |
|
0 |
|
|
|
Fatigue
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
760
|
67
|
0.100 |
None |
|
0 |
|
|
|
Bundle-Branch Block
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
613
|
283
|
0.100 |
None |
|
0 |
2
|
|
|
Constipation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
424
|
57
|
0.100 |
None |
|
0 |
|
|
|
Heart murmur
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
31
|
10
|
0.100 |
None |
|
0 |
|
|
|