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|
|Failure to thrive||
Weight faltering[ more ]
|30%-79% of people have these symptoms|
|Excessive daytime somnolence||0001262|
|5%-29% of people have these symptoms|
Low blood sodium levels
|Nausea and vomiting||0002017|
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of metabolism/homeostasis||
Metabolism abnormality[ more ]
Widely spaced eyes[ more ]
Decreased length of nose
Shortened nose[ more ]
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose[ more ]
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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