Orpha Number: 1909
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 | ||
| Nephropathy | 0000112 | |
| Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ]
|
0001622 |
| Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ]
|
0000083 |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| 5%-29% of people have these symptoms | ||
| Abnormal renal tubule morphology | 0000091 | |
| Abnormality of coagulation | 0001928 | |
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
|
Disease of the heart muscle
|
0001638 | |
| Hydrops fetalis | 0001789 | |
| Multicystic kidney dysplasia | 0000003 | |
| Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
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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