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 |
|---|---|---|
| 1%-4% of people have these symptoms | ||
|
Seizure
|
0001250 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal cardiac septum morphology | 0001671 | |
| Absent thumb |
Absent thumbs
|
0009777 |
| Cerebral visual impairment | 0100704 | |
| Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
|
0000750 |
| Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
|
0000324 |
| Global |
0001263 | |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypospadias | 0000047 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Patent ductus arteriosus | 0001643 | |
| Pineal cyst | 0012683 | |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| Shawl scrotum |
Scrotum surrounds penis
|
0000049 |
| Short thumb |
Short thumbs
Small thumbs
[ more ]
|
0009778 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Truncus arteriosus | 0001660 | |
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.
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.
