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 | ||
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Frontal bossing | 0002007 | |
| Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ]
|
0001376 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
| Patent ductus arteriosus | 0001643 | |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| 30%-79% of people have these symptoms | ||
| Abnormality of the bladder | 0000014 | |
| Duodenal stenosis | 0100867 | |
| Hydroureter | 0000072 | |
| Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| Symphalangism affecting the phalanges of the hand |
Fused finger bones of the hand
|
0009773 |
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
