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||
|1%-4% of people have these symptoms|
|Bilateral conductive hearing impairment||0008513|
|Percent of people who have these symptoms is not available through HPO|
Abnormal shape of pelvic girdle bone
|Brain stem compression||0002512|
|Cranial nerve paralysis||0006824|
|Elevated alkaline phosphatase||
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase[ more ]
|Fractures of the long bones||0003084|
Elevated urinary hydroxyproline
Abnormal susceptibility to fractures
Frequent broken bones
Increased bone fragility
Increased tendency to fractures[ more ]
|Premature loss of teeth||
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss[ more ]
|Vertebral compression fractures||
Learn more orphan products.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.