Orpha Number: 3353
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 | ||
Abnormality of dental morphology |
Abnormality of dental shape
Abnormally shaped teeth
Deformity of teeth
Dental deformity
Dental malformations
Malformed teeth
Misshapen teeth
Misshapened teeth
[ more ]
|
0006482 |
Brittle hair | 0002299 | |
Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ]
|
0002213 |
Reduced number of teeth |
Decreased tooth count
|
0009804 |
Sparse or absent eyelashes | 0200102 | |
Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
|
0002209 |
30%-79% of people have these symptoms | ||
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
Hyperlordosis |
Prominent swayback
|
0003307 |
Increased number of teeth |
Extra teeth
Increased tooth count
Supplemental teeth
[ more ]
|
0011069 |
Palmoplantar keratoderma |
Thickening of palms and soles
|
0000982 |
0002650 | ||
Sparse lateral eyebrow |
Limited hair on end of eyebrow
|
0005338 |
5%-29% of people have these symptoms | ||
Abnormal morphology of female internal genitalia | 0000008 | |
Abnormality of the hip bone |
Abnormality of the hips
|
0003272 |
Adenoma sebaceum | 0009720 | |
High hypermetropia |
Severe farsightedness
Severe long-sightedness
[ more ]
|
0008499 |
Multiple cafe-au-lait spots | 0007565 |
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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