Orpha Number: 1617
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 | ||
| Abnormality iris morphology |
Abnormality of the iris
|
0000525 |
| Bullet-shaped distal phalanx of the hallux |
Bullet-shaped outermost bone of big toe
|
0010078 |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| 0000175 | ||
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
|
0001510 |
| Hand clenching |
Clenched hands
|
0001188 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Long fingers | 0100807 | |
| Low-set, posteriorly rotated ears | 0000368 | |
| Neonatal |
Low muscle tone, in neonatal onset
|
0001319 |
|
Seizure
|
0001250 | |
| Severe global |
0011344 | |
| Short neck |
Decreased length of neck
|
0000470 |
| Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
| Toe |
Fused toes
Webbed toes
[ more ]
|
0001770 |
| 30%-79% of people have these symptoms | ||
| Abnormal oral frenulum morphology | 0000190 | |
| Autistic behavior | 0000729 | |
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Coloboma |
Notched pupil
|
0000589 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| Short philtrum | 0000322 | |
| Small face |
Short and narrow face
Small facies
[ more ]
|
0000274 |
| 5%-29% of people have these symptoms | ||
| Central apnea | 0002871 | |
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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