Orpha Number: 71
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||
|100% of people have these symptoms|
Decreased circulating cholesterol level
|80%-99% of people have these symptoms|
|Elevated hepatic transaminase||
High liver enzymes
Noninflammatory retina disease
|30%-79% of people have these symptoms|
Bloating[ more ]
|Abnormality of vitamin metabolism||0100508|
|Failure to thrive||
Weight faltering[ more ]
Retarded growth[ more ]
|Increased hepatocellular lipid droplets||0006565|
|5%-29% of people have these symptoms|
|EMG: myopathic abnormalities||0003458|
Fatty infiltration of liver
Fatty liver[ more ]
Loss of eyesight
Poor vision[ more ]
|1%-4% of people have these symptoms|
Absent tendon reflexes
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of blood and blood-forming
|Abnormality of the eye||
|Decreased LDL cholesterol concentration||0003563|
Low blood albumin
|Impaired vibratory sensation||
Decreased vibration sense
Decreased vibratory sense
Diminished vibratory sense
Impaired vibratory sense[ more ]
Onset in first year of life
Onset in infancy[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
|Reduced tendon reflexes||0001315|
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.
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.
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.
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.