Orpha Number: 85274
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|
Decreased activity of gonads
Tapering fingers[ more ]
|30%-79% of people have these symptoms|
|Abnormality of dental morphology||
Abnormality of dental shape
Abnormally shaped teeth
Deformity of teeth
Misshapened teeth[ more ]
|Misalignment of teeth||
Abnormal dental position
Abnormal teeth spacing
Abnormality of alignment of teeth
Abnormality of teeth spacing
Malposition of teeth
Malpositioned teeth[ more ]
Decreased body height
Small stature[ more ]
|Sparse body hair||0002231|
|5%-29% of people have these symptoms|
Undescended testis[ more ]
Small penis[ more ]
Loss of vision
Vision loss[ more ]
|Percent of people who have these symptoms is not available through HPO|
Mental retardation, nonspecific
Mental-retardation[ more ]
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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
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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