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 | ||
| Aplasia/Hypoplasia of the lungs |
Absent/small lungs
Absent/underdeveloped lungs
[ more ]
|
0006703 |
| Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| 0002650 | ||
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| 30%-79% of people have these symptoms | ||
| Abnormal |
Abnormality of the testis
|
0000035 |
| Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ]
|
0000164 |
| Abnormality of the voice |
Voice abnormality
|
0001608 |
| Bilateral single transverse palmar creases | 0007598 | |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Hypospadias | 0000047 | |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
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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