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 retinal pigmentation | 0007703 | |
| Global |
0001263 | |
| 0000822 | ||
| Retinal dystrophy |
Breakdown of light-sensitive cells in back of eye
|
0000556 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Stage 5 chronic |
0003774 | |
| 30%-79% of people have these symptoms | ||
| Nephronophthisis | 0000090 | |
| Premature ovarian insufficiency |
Early menopause
Premature menopause
Premature ovarian failure
[ more ]
|
0008209 |
| 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 |
| 5%-29% of people have these symptoms | ||
| Abnormality of bone mineral density | 0004348 | |
| 0001251 | ||
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Cone-shaped epiphysis |
Cone-shaped end part of bone
|
0010579 |
|
Excessive buildup of connective tissue and scarring of liver at birth
|
0002612 | |
| Percent of people who have these symptoms is not available through HPO | ||
|
Low number of red blood cells or hemoglobin
|
0001903 | |
| 0000007 | ||
| Polydipsia |
Extreme thirst
|
0001959 |
| Polyuria |
Increased urine output
|
0000103 |
| Rod-cone dystrophy | 0000510 | |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
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Conditions with similar signs and symptoms from Orphanet
|
|---|
|
SLSN presents genetic and clinical overlap with other ciliopathies, in particular with isolated NPHP, Joubert syndrome related diseases (JSRD), mainly Joubert syndrome with oculorenal defect (JS-OR), Bardet-Biedl syndrome (BBS) and Alström syndrome (see these terms). Physical examination should consider the presence of the main clinical signs of JSRD (hypotonia, ataxia and breathing abnormalities in infants) and BBS (polydactyly and obesity). The phenotypic hallmark of JSRD is the presence on MRI of 'molar tooth sign' (a midbrain-hindbrain malformation). Other extrarenal signs to consider are nystagmus, psychomotor and learning delay, diabetes mellitus, deafness, hypogonadism, and/or scoliosis.
Visit the
Orphanet disease page
for more information.
|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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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