What is MTHFR & MTHFR Gene Mutation? The Folate Problem ExplainedThis table lists the symptoms that people with this disease may have. For most diseases, the 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 HPO collect information about the symptoms that have been described in medical resources. The HPO updated regularly. Use HPO ID to access more in-depth information about the symptoms.
Making the diagnosis of rare genetic diseases or can often be challenging. Health professionals usually see someone's medical history, symptoms, physical examination, and laboratory test results to make a diagnosis. The following resources provide information relating to the diagnosis and testing for this condition. If you have any questions about the diagnosis, you should contact a health professional.
If you need medical advice, you can find a doctor or other health professional who has 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 the university or tertiary medical center in your area, because these centers are likely to see more complex cases and has the latest technology and treatments.
If you can not find a specialist in your local area, try contacting the national or international specialists. They may be able to refer you to someone they know through a conference or research efforts. Some specialists might be willing to consult with you or your local doctor over the phone or via email if you can not travel to them for treatment.
You can find more tips in our guide ,. We also encourage you to explore the rest of this page to find resources that can help you find a specialist.
related disease is a condition that has the same signs and symptoms. A health care provider may consider this condition in the table below when making a diagnosis. Please note that the table may not include all of the conditions that may be associated with this disease.
The research helps us better understand the disease and may 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 a valuable service. Many developing patient-centered information and is the driving force behind the research for better treatments and possibly a cure. They can direct you to the research, resources, and services. Many organizations also have an expert who serves as a medical adviser, or provide a list of doctor / clinic. Visit the group's website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement GARD.
These resources provide more information about these or related symptoms of the condition. Depth resource contains medical and scientific language that may be hard to understand. You may want to review this resource by medical professionals.
Questions sent to the GARD can be posted here if such information could be useful to other people. We removed all identifying information when posting questions to protect your privacy. If you do not want your question posted, please let us know.
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Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1 -888-205-2311
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