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|
Photosensitive skin rashes
Sensitivity to sunlight
Sun sensitivity[ more ]
Pale pigmentation[ more ]
Light eye color
Involuntary, rapid, rhythmic eye movements
|30%-79% of people have these symptoms|
Abnormal curving of the cornea or lens of the eye
Severe long-sightedness[ more ]
|Hypoplasia of the fovea||0007750|
Nearsightedness[ more ]
Extreme sensitivity of the eyes to light
Light hypersensitivity[ more ]
Squint eyes[ more ]
Loss of eyesight
Poor vision[ more ]
Pale eyelashes[ more ]
|5%-29% of people have these symptoms|
|Squamous cell carcinoma of the skin||0006739|
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
NORD RareLaunch® Workshops
December 1, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020
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. Submit a new question
My child has vision issues and a skin condition, which has been diagnosed as oculocutaneous albinism. Are there things I need to know about this condition other than keeping my daughter's skin covered? See answer