Orpha Number: 2819
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 | ||
| 0002353 | ||
| Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
|
0001288 |
| Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
| Hyperreflexia |
Increased reflexes
|
0001347 |
| Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
| Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ]
|
0002167 |
| Paraplegia |
Leg paralysis
|
0010550 |
|
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
| Urticaria |
Hives
|
0001025 |
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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