Orpha Number: 1067
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|
|Aplasia/Hypoplasia of the iris||
Absent/underdeveloped iris[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
Nearsightedness[ more ]
|Persistent pupillary membrane||0009917|
Drooping upper eyelid
Loss of eyesight
Poor vision[ more ]
|5%-29% of people have these symptoms|
|Abnormal heart morphology||
Abnormality of the heart
Abnormally shaped heart[ more ]
|Hypopigmentation of hair||0005599|
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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
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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