Orpha Number: 53715
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|
|Calcification of muscles||0100249|
|Periarticular subcutaneous nodules||0007470|
|30%-79% of people have these symptoms|
|5%-29% of people have these symptoms|
|Abnormality of the dentition||
Dental abnormality[ more ]
|Abnormality of the palate||
Abnormality of the roof of the mouth
Red and swollen gums[ more ]
Husky voice[ more ]
Sweating, increased[ more ]
|Hypopigmented skin patches||0001053|
Tumor of the skin[ more ]
Increased spleen size
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.
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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