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 | ||
| 2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
| Abnormality of the optic disc | 0012795 | |
| Absent thumb |
Absent thumbs
|
0009777 |
| Autistic behavior | 0000729 | |
| Cerebral visual impairment | 0100704 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| 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 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Hyperactivity |
More active than typical
|
0000752 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypospadias | 0000047 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Motor delay | 0001270 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Patent ductus arteriosus | 0001643 | |
| Pineal cyst | 0012683 | |
| Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| Sacral dimple |
Spinal dimple
|
0000960 |
|
Seizure
|
0001250 | |
| Shawl scrotum |
Scrotum surrounds penis
|
0000049 |
| Short thumb |
Short thumbs
Small thumbs
[ more ]
|
0009778 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Truncus arteriosus | 0001660 | |
| Ureteral |
Double ureter
|
0000073 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Global |
0001263 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
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.
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