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|
|Abnormality of epiphysis morphology||
Abnormal shape of end part of bone
|Abnormality of the renal tubule||0000091|
|Failure to thrive||
Weight faltering[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures[ more ]
|Reduced bone mineral density||0004349|
Increased spleen size
|30%-79% of people have these symptoms|
|Abnormality of dental morphology||
Abnormality of dental shape
Abnormally shaped teeth
Deformity of teeth
Misshapened teeth[ more ]
Tooth decay[ more ]
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches[ more ]
Low platelet count
|5%-29% of people have these symptoms|
Loss of eyesight
Poor vision[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Basal ganglia calcification||0002135|
Increased bone density in shaft of long bone
|Distal renal tubular acidosis||0008341|
|Elevated serum acid phosphatase||
Acid phosphatase elevated
Enlarged liver and spleen
|Optic nerve compression||0007807|
|Periodic hypokalemic paresis||0008153|
Decreased body height
Small stature[ more ]
Loss of vision
Vision loss[ more ]
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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
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.