Orpha Number: 1259
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||
|80%-99% of people have these symptoms|
Dislocated lenses[ more ]
Nearsightedness[ more ]
Drooping upper eyelid
|30%-79% of people have these symptoms|
Abnormal fingernail development
Fullness of eyelids
Swelling of eyelids[ more ]
|5%-29% of people have these symptoms|
|Abnormality of retinal pigmentation||0007703|
|Abnormality of the helix||0011039|
Prominent back of the skull
Prominent posterior skull[ more ]
|Percent of people who have these symptoms is not available through HPO|
Congenital drooping upper eyelid
|Increased axial globe length||
Increased front to back length of eyeball
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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