Orpha Number: 1173
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 electroretinogram | 0000512 | |
| Abnormality of retinal pigmentation | 0007703 | |
| Abnormality of the hypothalamus-pituitary axis | 0000864 | |
| 0001251 | ||
| Decreased fertility |
Abnormal fertility
|
0000144 |
|
Enlarged male breast
|
0000771 | |
| Hypogonadotropic |
0000044 | |
| Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ]
|
0002167 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Optic atrophy | 0000648 | |
| 30%-79% of people have these symptoms | ||
| Hemiplegia/hemiparesis |
Paralysis or weakness of one side of body
|
0004374 |
| Muscular |
Low or weak muscle tone
|
0001252 |
| 5%-29% of people have these symptoms | ||
| Brachycephaly |
Short and broad skull
|
0000248 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
|
Dementia, progressive
Progressive dementia
[ more ]
|
0000726 | |
| Oligomenorrhea |
Light or infrequent menstrual periods
|
0000876 |
| Personality changes |
Personality change
|
0000751 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Supernumerary nipple |
Accessory nipple
|
0002558 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ]
|
0001939 |
| Abnormality of the skeletal system |
Skeletal abnormalities
Skeletal anomalies
[ more ]
|
0000924 |
| 0000007 | ||
| Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| Chorioretinal dystrophy | 0001135 | |
|
Difficulty articulating speech
|
0001260 | |
| Infertility | 0000789 | |
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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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