RETINITIS PIGMENTOSA 6

General Information (adopted from Orphanet):

Synonyms, Signs: RETINITIS PIGMENTOSA, X-LINKED RECESSIVE, 6
RP6
Number of Symptoms 9
OrphanetNr:
OMIM Id: 312612
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:0001133) Constriction of peripheral visual field 33 / 7739
2
 (HPO:0000662) Nyctalopia 92 / 7739
3
 (HPO:0000510) Rod-cone dystrophy 266 / 7739
4
 (HPO:0000580) Pigmentary retinopathy 49 / 7739
5
 (HPO:0200065) Chorioretinal degeneration 7 / 7739
6
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
7
 (HPO:0012263) Immotile cilia 7 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
 (OMIM) Gyrate choroidal atrophy 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: