Orpha Number: 1919
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 |
---|---|---|
30%-79% of people have these symptoms | ||
Abnormal nasal base |
Abnormality of base of nose
|
0012808 |
Aplasia/Hypoplasia of the nails |
Absent/small nails
Absent/underdeveloped nails
[ more ]
|
0008386 |
Short fingers or toes
|
0001156 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
Global |
0001263 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ]
|
0000303 |
Unilateral |
One sided cleft upper lip
|
0100333 |
5%-29% of people have these symptoms | ||
Abnormal mitral valve morphology | 0001633 | |
Aplasia/Hypoplasia of fingers |
Absent/small fingers
Absent/underdeveloped fingers
[ more ]
|
0006265 |
Hypospadias | 0000047 | |
Malar flattening |
Zygomatic flattening
|
0000272 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Tetralogy of Fallot | 0001636 |
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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