Orpha Number: 1435
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 | ||
| Chorioretinal degeneration | 0200065 | |
| Choroideremia | 0001139 | |
| 30%-79% of people have these symptoms | ||
| Abnormal cochlea morphology | 0000375 | |
| Abnormality of the Achilles tendon | 0005109 | |
| Ankle clonus |
Abnormal rhythmic movements of ankle
|
0011448 |
| Bilateral sensorineural hearing impairment | 0008619 | |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Dilatated internal auditory canal | 0004458 | |
| Gait |
Inability to coordinate movements when walking
|
0002066 |
| Global |
0001263 | |
| Growth |
0000824 | |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
| Obesity |
Having too much body fat
|
0001513 |
| Optic atrophy | 0000648 | |
| Peripheral visual field loss |
Loss of peripheral vision
|
0007994 |
| Pituitary hypothyroidism |
Low thyroid gland function due to abnormal pituitary gland
|
0008245 |
| Postnatal growth retardation |
Growth delay as children
|
0008897 |
| Progressive night blindness | 0007675 | |
| Reticular pigmentary degeneration | 0007937 | |
| Stapes ankylosis | 0000381 | |
| Visual acuity test abnormality | 0030532 | |
| 5%-29% of people have these symptoms | ||
| Dysdiadochokinesis |
Difficulty performing quick and alternating movements
|
0002075 |
| 0000822 | ||
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Renal artery stenosis |
Narrowing of kidney artery
|
0001920 |
| 0001250 | ||
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Upper limb muscle weakness |
Decreased arm strength
Weak arm
[ more ]
|
0003484 |
| Percent of people who have these symptoms is not available through HPO | ||
| Chorioretinal atrophy | 0000533 | |
| Constriction of peripheral visual field |
Limited peripheral vision
|
0001133 |
| 0001466 | ||
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
| Nyctalopia |
Night blindness
Night-blindness
Poor night vision
[ more ]
|
0000662 |
| Progressive sensorineural hearing impairment | 0000408 | |
| Progressive visual loss |
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ]
|
0000529 |
| 0001417 | ||
| 0001419 | ||
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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