Orpha Number: 79280
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|
|Angiokeratoma corporis diffusum||0001071|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation[ more ]
Firm lump under the skin
|Telangiectasia of the oral mucosa||
Spider veins of the oral mucosa
|Telangiectasia of the skin||0100585|
|30%-79% of people have these symptoms|
Increased heart size[ more ]
|Coarse facial features||
Coarse facial appearance
|Depressed nasal bridge||
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root[ more ]
Hearing defect[ more ]
|Opacification of the corneal stroma||0007759|
|Thick vermilion border||
Increased volume of lip
Thick lips[ more ]
Ringing in ears
Ringing in the ears[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the eye||
Symptoms begin in adulthood
High urine amino acid levels
Increased levels of animo acids in urine[ more ]
Degeneration of cerebrum
Abnormality of cognition
Mental impairment[ more ]
|Distal muscle weakness||
Weakness of outermost muscles
|Distal sensory impairment||
Decreased sensation in extremities
|Distal sensory impairment of all modalities||0003409|
|Increased urinary O-linked sialopeptides||0003461|
|Peripheral axonal neuropathy||0003477|
|Sensorineural hearing impairment||0000407|
|Thick lower lip vermilion||
Increased volume of lower lip
Plump lower lip
Prominent lower lip[ more ]
|White mater abnormalities in the posterior periventricular region||0006812|
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.