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 | Learn More: HPO ID |
|---|---|---|
| 80%-99% of people have these symptoms | ||
| 0001298 | ||
| Ethylmalonic aciduria | 0003219 | |
| 30%-79% of people have these symptoms | ||
| Abnormal basal ganglia |
0012751 | |
| Abnormal pyramidal sign | 0007256 | |
| Abnormality of extrapyramidal motor function | 0002071 | |
| Acrocyanosis |
Persistent blue color of hands, feet, or parts of face
|
0001063 |
| 0001251 | ||
|
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
|
0002376 | |
| Diarrhea |
Watery stool
|
0002014 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Lactic acidosis |
Increased lactate in body
|
0003128 |
| Neurodevelopmental delay | 0012758 | |
| Petechiae | 0000967 | |
| Retinal vascular tortuosity | 0012841 | |
| 0001250 | ||
| 5%-29% of people have these symptoms | ||
| Abnormal brainstem MRI signal intensity | 0012747 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal retinal vascular morphology |
Abnormality of retina blood vessels
|
0008046 |
| 0000007 | ||
| Chronic diarrhea | 0002028 | |
| Cytochrome C oxidase-negative muscle fibers | 0003688 | |
| Focal T2 hyperintense basal ganglia lesion | 0007183 | |
| Global |
0001263 | |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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
|
|---|
|
MADD and SCADD should be taken into account in the differential diagnosis of EE.
Visit the
Orphanet disease page
for more information.
|
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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