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||
|5%-29% of people have these symptoms|
|Delayed eruption of teeth||
Delayed teeth eruption
Delayed tooth eruption
Late eruption of teeth
Late tooth eruption[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the thorax||
Abnormality of the chest
|Absent paranasal sinuses||
Missing paranasal sinuses
Tooth decay[ more ]
|Hypoplastic frontal sinuses||0002738|
|Limited elbow extension||
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension[ more ]
|Reduced bone mineral density||0004349|
Increased thickness of skull cap
Thickened skull cap[ 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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What is Pyle disease? Is it genetic? See answer