Orpha Number: 2386
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||
|100% of people have these symptoms|
Thickening of the outer layer of the skin of the palms and soles
|80%-99% of people have these symptoms|
Progressive dementia[ more ]
|30%-79% of people have these symptoms|
|5%-29% of people have these symptoms|
|Decreased number of peripheral myelinated nerve fibers||0003380|
|Hypoplasia of the
Underdevelopment of part of brain called corpus callosum
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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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