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||
|30%-79% of people have these symptoms|
Involuntary, rapid, rhythmic eye movements
Loss of vision
Vision loss[ more ]
|5%-29% of people have these symptoms|
Loss of developmental milestones
Mental deterioration in childhood[ more ]
Retarded growth[ more ]
Too much cerebrospinal fluid in the brain
Eye muscle paralysis
Early onset of puberty
Early puberty[ more ]
Eyeballs bulging out
Protruding eyes[ more ]
Squint eyes[ more ]
|Visual field defect||
Partial loss of field of vision
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