CONE-ROD DYSTROPHY 9

General Information (adopted from Orphanet):

Synonyms, Signs: CORD9
Number of Symptoms 3
OrphanetNr:
OMIM Id: 612775
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:0000505) Visual impairment 297 / 7739
2
(HPO:0000548) Cone/cone-rod dystrophy 47 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Danciger et al. (2001) described a consanguineous Brazilian family segregating autosomal recessive CORD. Affected family members had childhood-onset visual acuity impairment, which progressed over decades to major loss of central and then peripheral visual function. In the 2 ...
Molecular genetics OMIM Danciger et al. (2001) screened the exons of a dual specificity phosphatase gene (DUSP4; 602747) that maps in the CORD9 region but identified no disease-causing mutations.

In 4 consanguineous families with cone-rod dystrophy linked to the ...