Orpha Number: 238769
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 | ||
| Agenesis of |
0001274 | |
| 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 |
| Exaggerated cupid's bow |
Cupid bow upper lip
Cupid-bow shaped upper lip
Prominent cupid-bow of upper lip
[ more ]
|
0002263 |
| Generalized tonic-clonic |
Grand mal seizures
|
0002069 |
| Global |
0001263 | |
|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
| 30%-79% of people have these symptoms | ||
| Abnormal cardiac septum morphology | 0001671 | |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Smooth philtrum | 0000319 | |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Telecanthus |
Corners of eye widely separated
|
0000506 |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| Ventriculomegaly | 0002119 | |
| 5%-29% of people have these symptoms | ||
| Biparietal narrowing | 0004422 | |
| Frontal bossing | 0002007 | |
| High forehead | 0000348 | |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Intestinal malrotation | 0002566 | |
| Optic disc hypoplasia | 0007766 | |
| Preauricular skin tag | 0000384 | |
| Prominent metopic ridge | 0005487 | |
|
Abnormal curving of the spine
|
0002650 | |
| Synophrys |
Monobrow
Unibrow
[ more ]
|
0000664 |
| Vesicoureteral reflux | 0000076 | |
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.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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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