Orpha Number: 63862
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 | ||
| Anencephaly | 0002323 | |
| 0000175 | ||
| Omphalocele | 0001539 | |
| Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ]
|
0001622 |
| Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
| Unilateral |
One sided cleft upper lip
|
0100333 |
| 30%-79% of people have these symptoms | ||
| 0000776 | ||
| Encephalocele | 0002084 | |
| Spina bifida | 0002414 | |
| 5%-29% of people have these symptoms | ||
| Abnormality of cardiovascular system morphology | 0030680 | |
| Anal atresia |
Absent anus
|
0002023 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
| Renal agenesis |
Absent kidney
Missing kidney
[ more ]
|
0000104 |
| Tracheoesophageal fistula | 0002575 | |
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.
