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 eyebrow morphology |
Abnormality of the eyebrow
|
0000534 |
| Abnormal pupil morphology |
Abnormality of the pupil
Pupillary abnormalities
Pupillary abnormality
[ more ]
|
0000615 |
| Abnormality of the fontanelles or cranial sutures | 0000235 | |
| Abnormality of the skin | 0000951 | |
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
|
Cleft roof of mouth
|
0000175 | |
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
| Encephalocele | 0002084 | |
| Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
|
0000324 |
| Frontal bossing | 0002007 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Iris coloboma |
Cat eye
|
0000612 |
| Laryngomalacia |
Softening of voice box tissue
|
0001601 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Median |
Central cleft upper lip
|
0000161 |
| Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
| Midline facial cleft | 0100629 | |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
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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