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 |
|---|---|---|
| Percent of people who have these symptoms is not available through HPO | ||
| Absence of subcutaneous fat |
Absent fat below the skin
Lack of fatty tissue below the skin
[ more ]
|
0007485 |
| Ascites |
Accumulation of fluid in the abdomen
|
0001541 |
| 0000007 | ||
| Cachexia |
Wasting syndrome
|
0004326 |
| Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ]
|
0000444 |
| Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
| Dermal atrophy |
Skin degeneration
|
0004334 |
| Dry skin | 0000958 | |
| Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| High pitched voice | 0001620 | |
| 0000822 | ||
| Hypoplasia of dental enamel |
Underdeveloped teeth enamel
|
0006297 |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Narrow face |
Decreased breadth of face
Decreased width of face
[ more ]
|
0000275 |
| Optic atrophy | 0000648 | |
| Poor coordination | 0002370 | |
| Prematurely aged appearance |
Precociously senile appearance
|
0007495 |
| Prominent supraorbital ridges |
Prominent brow
|
0000336 |
|
High urine protein levels
Protein in urine
[ more ]
|
0000093 | |
| Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ]
|
0000083 |
| 0002650 | ||
| Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
|
0003510 |
| Ventriculomegaly | 0002119 | |
| Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
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.
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.
