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
Heart defect[ more ]
Clouding of the lens of the eye
Cloudy lens[ more ]
|Hypopigmentation of hair||
Loss of hair color
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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