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 |
|---|---|---|
| Percent of people who have these symptoms is not available through HPO | ||
| 0001251 | ||
| 0000007 | ||
| Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ]
|
0001321 |
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| Delayed myelination | 0012448 | |
| Eyelid myoclonus | 0025097 | |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Generalized non-motor (absence) |
Brief seizures with staring spells
|
0002121 |
| Global |
0001263 | |
| Hepatomegaly |
Enlarged liver
|
0002240 |
|
Yellow skin
Yellowing of the skin
[ more ]
|
0000952 | |
| Megaloblastic |
0001889 | |
| Pallor | 0000980 | |
| Pancytopenia |
Low blood cell count
|
0001876 |
| Poor head control | 0002421 | |
| Postnatal |
0005484 | |
|
Low platelet count
|
0001873 | |
| 0003828 | ||
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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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