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 |
|---|---|---|
| 30%-79% of people have these symptoms | ||
| Holoprosencephaly | 0001360 | |
| 5%-29% of people have these symptoms | ||
| Anophthalmia |
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ]
|
0000528 |
| Anosmia |
Lost smell
|
0000458 |
| Coloboma |
Notched pupil
|
0000589 |
| Cyclopia |
Cyclops eye
Single central eye
[ more ]
|
0009914 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| 1%-4% of people have these symptoms | ||
| Abnormality of |
0002916 | |
| Abnormality of the nasopharynx | 0001739 | |
| Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ]
|
0000453 |
| Cleft upper lip |
Harelip
|
0000204 |
| Growth |
0000824 | |
| Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ]
|
0000601 |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
| Midnasal stenosis | 0010644 | |
| Prominent median palatal raphe |
Prominent central ridge on roof of the mouth
|
0002708 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Single median maxillary incisor |
Only one upper front tooth
|
0006315 |
| Specific learning disability | 0001328 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Pyriform aperture stenosis | 0025011 | |
| Torus palatinus | 0100789 | |
| 0003828 | ||
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.
