Orpha Number: 90646
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|
|Abnormality of the internal auditory canal||0011384|
Delayed pubertal development
Delayed pubertal growth
Pubertal delay[ more ]
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development[ more ]
|Enlarged cochlear aqueduct||0011388|
|Progressive sensorineural hearing impairment||0000408|
|Severe conductive hearing impairment||0012717|
|30%-79% of people have these symptoms|
Psychiatric disturbances[ more ]
|5%-29% of people have these symptoms|
Abnormality of cognition
Mental impairment[ more ]
Night blindness since birth
Prominent eye folds[ more ]
Different colored eyes
Widely spaced eyes[ more ]
|Low levels of vitamin B1||
Vitamin B1 deficiency
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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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