Orpha Number: 1643
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 | ||
| Abnormality of |
0002916 | |
| Secondary amenorrhea | 0000869 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| 30%-79% of people have these symptoms | ||
| Aplasia/Hypoplasia affecting the eye |
Absent/small eye
Absent/underdeveloped eye
[ more ]
|
0008056 |
| Aplasia/Hypoplasia of the skin |
Absent/small skin
Absent/underdeveloped skin
[ more ]
|
0008065 |
| Decreased fertility |
Abnormal fertility
|
0000144 |
| Hypogonadotrophic |
0000044 | |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| Opacification of the corneal stroma | 0007759 | |
| Polycystic ovaries | 0000147 | |
| 5%-29% of people have these symptoms | ||
| Ectopic anus |
Abnormal anus position
|
0004397 |
| Sacral dimple |
Spinal dimple
|
0000960 |
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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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