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 | ||
| Abnormal pupil morphology |
Abnormality of the pupil
Pupillary abnormalities
Pupillary abnormality
[ more ]
|
0000615 |
| Epidermal nevus | 0010816 | |
| Genu recurvatum |
Back knee
Knee hyperextension
[ more ]
|
0002816 |
| Hemangioma |
Strawberry mark
|
0001028 |
| Hyperostosis |
Bone overgrowth
|
0100774 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Irregular hyperpigmentation | 0007400 | |
| Limbal dermoid | 0001140 | |
| Lower limb asymmetry |
Left and right leg differ in length or width
|
0100559 |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| Open bite |
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth
[ more ]
|
0010807 |
| Subcutaneous lipoma | 0001031 | |
| 30%-79% of people have these symptoms | ||
| Abnormality of the parathyroid gland | 0000828 | |
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Communicating |
0001334 | |
| Exostoses |
Formation of new noncancerous bone on top of existing bone
|
0100777 |
| Heterochromia iridis |
Different colored eyes
|
0001100 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ]
|
0000303 |
| Retinal detachment |
Detached retina
|
0000541 |
| Shagreen patch | 0009721 | |
| Venous insufficiency |
Poorly functioning veins
|
0005293 |
| 5%-29% of people have these symptoms | ||
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| Bronchogenic cyst | 0100730 | |
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Polycystic ovaries | 0000147 | |
| Skeletal dysplasia | 0002652 | |
| Splenomegaly |
Increased spleen size
|
0001744 |
| Thymus hyperplasia |
Enlarged thymus
|
0010516 |
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.
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