CONE-ROD DYSTROPHY 13

General Information (adopted from Orphanet):

Synonyms, Signs: CORD13
Number of Symptoms 8
OrphanetNr:
OMIM Id: 608194
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:0007688) Undetectable light- and dark-adapted electroretinogram 9 / 7739
2
 (HPO:0000551) Abnormality of color vision 20 / 7739
3
 (HPO:0000613) Photophobia 158 / 7739
4
 (HPO:0000505) Visual impairment 297 / 7739
5
 (HPO:0000548) Cone/cone-rod dystrophy 47 / 7739
6
 (HPO:0000608) Macular degeneration 36 / 7739
7
 (HPO:0007663) Reduced visual acuity 100 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hameed et al. (2003) reported 4 consanguineous Pakistani families with cone-rod dystrophy. Two of the families were large: 1 had 8 affected members over 2 generations, and the other had 8 affected members over 3 generations. The other ...
Molecular genetics OMIM In a large Pakistani family with cone-rod dystrophy, Hameed et al. (2003) identified a homozygous mutation in the RPGRIP1 gene (605446.0005). Three additional affected Pakistani families had a different homozygous mutation in the RPGRIP1 gene (605446.0006).