Orpha Number: 1759
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names | Learn More: HPO ID |
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal dermatoglyphics |
Abnormal fingerprints
|
0007477 |
Abnormal tricuspid valve morphology | 0001702 | |
Asymmetric growth |
Uneven or disproportionate growth of one body part compared to another
|
0100555 |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Dextrocardia |
Heart tip and four chambers point towards right side of body
|
0001651 |
Diastomatomyelia | 0100563 | |
Duodenal stenosis | 0100867 | |
Hepatomegaly |
Enlarged liver
|
0002240 |
Intestinal malrotation | 0002566 | |
Meningocele | 0002435 | |
Missing ribs |
Absent ribs
Decreased rib number
[ more ]
|
0000921 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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