Orpha Number: 79147
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||
|80%-99% of people have these symptoms|
|30%-79% of people have these symptoms|
|Abnormal cutaneous collagen fibril morphology||0031512|
|Abnormality of epidermal morphology||0011124|
|Increased number of elastic fibers in the dermis||0025164|
Spotty increased pigmentation
|5%-29% of people have these symptoms|
|Abnormal scalp morphology||
Abnormality of the scalp
|Abnormality of the periorbital region||0000606|
|Abnormality of the pinna||
Abnormally shaped ears
Malformed ears[ more ]
|Crusting erythematous dermatitis||0007473|
Skin itching[ more ]
|1%-4% of people have these symptoms|
|Abnormal oral mucosa morphology||
Abnormality of lining of mouth
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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