Orpha Number: 2047
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 | ||
Dermal atrophy |
Skin degeneration
|
0004334 |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
Progressive sensorineural hearing impairment | 0000408 | |
30%-79% of people have these symptoms | ||
Alopecia |
Hair loss
|
0001596 |
Aphasia |
Difficulty finding words
Losing words
Loss of words
[ more ]
|
0002381 |
0001251 | ||
Atherosclerosis |
Narrowing and hardening of arteries
|
0002621 |
Bone cyst |
Bone cysts
|
0012062 |
Cachexia |
Wasting syndrome
|
0004326 |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Dementia, progressive
Progressive dementia
[ more ]
|
0000726 | |
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
|
0002376 | |
0002353 | ||
Impaired pain sensation |
Decreased pain sensation
|
0007328 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Rod-cone dystrophy | 0000510 | |
0002650 | ||
0001250 | ||
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
Skin ulcer |
Open skin sore
|
0200042 |
5%-29% of people have these symptoms | ||
Abnormality of movement |
Movement disorder
Unusual movement
[ more ]
|
0100022 |
Abnormality of the thyroid gland |
Thyroid abnormality
|
0000820 |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ]
|
0000670 |
Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Primary adrenal insufficiency | 0008207 | |
Type II |
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ]
|
0005978 |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
Percent of people who have these symptoms is not available through HPO | ||
Alopecia of scalp |
Pathologic hair loss from scalp
Scalp hair loss
[ more ]
|
0002293 |
0000006 | ||
Hyperkeratosis | 0000962 | |
Increased bone density with cystic changes | 0005700 | |
Increased CSF |
0002922 | |
Kyphoscoliosis | 0002751 | |
0000939 | ||
0009830 |
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.
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.
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.