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||
|Percent of people who have these symptoms is not available through HPO|
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.
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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Our child was recently diagnosed with 10q22.3q23.2 microdeletion syndrome. She was also diagnosed with mannose binding lectin deficiency. With these both stemming from Chromosome 10 is there any additional information on these specific deletions and if there is a relation between the two? Additionally, is there any information on what possible health risks we should look out for (crohn's disease, heart, liver etc). Thank you for your time. See answer
My son was diagnosed with this last year. He has had multiple vaccinations. What are the actual numbers of how many Americans have this? Is there any work being done on finding a cure? Are there any ongoing studies? I know a little girl who has the same thing and she has had problems with her urinary tract but my son only had problems with his ears, nose and throat. Are these differences common? Any information would be greatly appreciated. Its very frustrating having so many questions and not many answers. See answer
My child was just diagnosed with mannose binding lectin protein deficiency. There is alot of information out there, but most is confusing. Are there any statistics on how many people have this? Do they normally live an average life span if you can keep them healthy? Will my future grandchildren be at risk for inheriting it? Is there possibly any link between this disease and taking levaquin during pregnancy? See answer
My wife has been diagnosed with MBL deficiency. Can you provide us with information on this condition? See answer