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: Sort by abundance 

1
(HPO:0000580) Pigmentary retinopathy 49 / 7739
2
(HPO:0000486) Strabismus 576 / 7739
3
(HPO:0000540) Hypermetropia 99 / 7739
4
(HPO:0000483) Astigmatism 67 / 7739
5
(HPO:0007852) Pericentral pigmentary retinopathy 1 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: