Orpha Number: 2732
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|
|Cerebral cortical atrophy||
Decrease in size of the outer layer of the brain due to loss of brain cells
Hearing defect[ more ]
|30%-79% of people have these symptoms|
Involuntary, rapid, rhythmic eye movements
|5%-29% of people have these symptoms|
Birth defect that causes a hole in the innermost layer at the back of the eye
|Neurological speech impairment||
Speech impediment[ more ]
Squint eyes[ more ]
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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