CONE-ROD DYSTROPHY 11

General Information (adopted from Orphanet):

Synonyms, Signs: CORD11
Number of Symptoms 7
OrphanetNr:
OMIM Id: 610381
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0011504) Bull's eye maculopathy 8 / 7739
2
(HPO:0007401) Macular atrophy 14 / 7739
3
(HPO:0000613) Photophobia rare [HPO:skoehler] 158 / 7739
4
(HPO:0007924) Slow decrease in visual acuity 4 / 7739
5
(HPO:0000608) Macular degeneration 15028672 IBIS 36 / 7739
6
(HPO:0000548) Cone/cone-rod dystrophy 15028672 IBIS 47 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM To test the hypothesis that defects in the RAXL1 gene could result in retinal disease, Wang et al. (2004) screened a cohort of 322 patients with CORD, 107 with Leber congenital amaurosis (LCA; see 204000), 92 with age-related ...