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|
Stretched and thinned heart muscle
|30%-79% of people have these symptoms|
|Abnormal mitochondrial morphology||0008322|
|Abnormality of neutrophils||0001874|
|5%-29% of people have these symptoms|
Low blood neutrophil count
Low neutrophil count[ more ]
Clubfoot[ more ]
|Percent of people who have these symptoms is not available through HPO|
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat[ more ]
|Congestive heart failure||
Heart failure[ more ]
|Deeply set eye||
Deep set eye
Sunken eye[ more ]
|Failure to thrive||
Weight faltering[ more ]
Tiredness[ more ]
Increased size of cheeks
Large cheeks[ more ]
Impaired gait[ more ]
Retarded growth[ more ]
Enlarged and thickened heart muscle
|Intermittent lactic acidemia||0004913|
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent lower jaw[ more ]
|Recurrent infections in infancy and early childhood||0005437|
Round facial appearance
Round facial shape[ more ]
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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes hereditary, dilated and nutritional cardiomyopathy and idiopathic/cyclic neutropenia (see these terms).
Visit the Orphanet disease page for more information.
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.
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.
NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
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, firstname.lastname@example.org
Co-funding Institute(s): Office of Dietary Supplements, Office of Rare Diseases Research
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Could you provide information on Barth syndrome? See answer