Orpha Number: 2086
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 |
---|---|---|
30%-79% of people have these symptoms | ||
Neurofibromas | 0001067 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Optic atrophy | 0000648 | |
Visual loss |
Loss of vision
Vision loss
[ more ]
|
0000572 |
5%-29% of people have these symptoms | ||
Blindness | 0000618 | |
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
|
0002376 | |
Fatigable weakness | 0003473 | |
Global |
0001263 | |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
|
0001510 |
Headache |
Headaches
|
0002315 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Nausea | 0002018 | |
Ophthalmoplegia |
Eye muscle paralysis
|
0000602 |
Papilledema | 0001085 | |
Precocious puberty |
Early onset of puberty
Early puberty
[ more ]
|
0000826 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
0001250 | ||
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Vertigo |
Dizzy spell
|
0002321 |
Visual field defect |
Partial loss of field of vision
|
0001123 |
Vomiting |
Throwing up
|
0002013 |
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.
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.