RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE
General Information (adopted from Orphanet):
Synonyms, Signs: |
RETINITIS PIGMENTOSA, PERICENTRAL |
Number of Symptoms | 6 |
OrphanetNr: | |
OMIM Id: |
268060
|
ICD-10: |
|
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal recessive inheritance [Omim] |
Age of onset: |
|
Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
|
(HPO:0000580) | Pigmentary retinopathy | 49 / 7739 | ||||
|
(HPO:0000486) | Strabismus | 576 / 7739 | ||||
|
(HPO:0000540) | Hypermetropia | 99 / 7739 | ||||
|
(HPO:0000483) | Astigmatism | 67 / 7739 | ||||
|
(HPO:0007852) | Pericentral pigmentary retinopathy | 1 / 7739 | ||||
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|