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 retinal pigmentation||0007703|
|Progressive external ophthalmoplegia||0000590|
|Third degree atrioventricular block||
Complete heart block
|30%-79% of people have these symptoms|
Hearing defect[ more ]
|Progressive intervertebral space narrowing||0004622|
|Ragged-red muscle fibers||0003200|
|Reduced tendon reflexes||0001315|
|Skeletal muscle atrophy||
Muscle wasting[ more ]
|5%-29% of people have these symptoms|
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Basal ganglia calcification||0002135|
Progressive dementia[ more ]
|Increased CSF protein||0002922|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
|Primary adrenal insufficiency||0008207|
Drooping upper eyelid
|Renal Fanconi syndrome||0001994|
|Renal tubular acidosis||0001947|
|Sensorineural hearing impairment||0000407|
Decreased body height
Small stature[ more ]
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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
Nutritional Interventions in Primary Mitochondrial Disorders: Developing an Evidence Base
Tuesday, December 2, 2014 -
Wednesday, December 3, 2014
Location: NIH Campus, Bethesda, MD
Description: The goal of this meeting is to explore the use of nutritional interventions, including dietary supplements, in primary mitochondrial disorders (PMD); identify gaps in knowledge; develop a research agenda; and identify research opportunities to promote an evidence base for the use of nutritional interventions in primary mitochondrial disorders.
Contact: Kathryn Camp, MS, RD, CSP,(301) 435-3608, email@example.com
Co-funding Institute(s): Office of Dietary Supplements, Office of Rare Diseases Research
2013 Neurobiology of Disease in Children Symposium: Mitochondrial Disease
Wednesday, October 30, 2013 -
Wednesday, October 30, 2013
Location: Austin, TX
Description: The topic for the 2013 NDC Symposium is Mitochondrial Disease. The NDC Symposium is a forum for preeminent investigators assembled to discuss recent accomplishments and future directions with a large group of child neurologists, program officers from the National Institutes of Health, and members of dedicated foundations and associations.
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
Fifth International Conference on Pediatric Mechanical Circulatory Support Systems and Pediatric Cardiopulmonary Perfusion
Thursday, May 28, 2009 -
Saturday, May 30, 2009
Location: Hilton Anatole, Dallas, TX
Description: The main objective of this conference was to focus on the current problems associated with pediatric cardiac patients during and after acute or chronic cardiac support. At this conference, we brought together many distinguished physicians and scientists to define precisely the current problems and to suggest solutions with novel approaches.
Contact: Dr. Frank Evans, NHLBI301-402-2647
Co-funding Institute(s): National Heart, Lung, and Blood Institute
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. Submit a new question
My dad was diagnosed with Kearns-Sayre Syndrome in the 1980's. He copes well and is very independent. He went through genetic counseling while I was child and was told this mother was the carrier and once it hit a male the gene stopped. This was in the 80's. I am now married with 3 children of my own and I often wonder if this information is true. Is there any way that I could be a carrier? See answer
I know a young man in Brazil who has Kearn-Sayre syndrome. Could you provide me with information about this condition? Are there treatment centers that specialize in treating individuals with Kearns-Sayre syndrome? See answer