Orpha Number: 3222
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|
High blood uric acid level
|Sensorineural hearing impairment||0000407|
|30%-79% of people have these symptoms|
|Abnormal aortic morphology||0001679|
Mental retardation, nonspecific
Mental-retardation[ more ]
Low or weak muscle tone
|Neurological speech impairment||
Speech impediment[ more ]
Renal failure in adulthood[ more ]
|5%-29% of people have these symptoms|
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat[ more ]
Disease of the heart muscle
Squint eyes[ more ]
|Percent of people who have these symptoms is not available through HPO|
Decreased muscle tone
Low muscle tone[ more ]
High urine uric acid level
|Increased phosphoribosylpyrophosphate synthetase level||0003240|
|Uric acid nephrolithiasis||
Uric acid stones
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
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