CONE-ROD DYSTROPHY, X-LINKED, 3

General Information (adopted from Orphanet):

Synonyms, Signs: CORDX3
Number of Symptoms 8
OrphanetNr:
OMIM Id: 300476
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked 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 16505158 IBIS 297 / 7739
2
(HPO:0008002) Abnormality of macular pigmentation 12807962 IBIS 20 / 7739
3
(HPO:0000551) Abnormality of color vision 16505158 IBIS 20 / 7739
4
(HPO:0000603) Central scotoma 12807962 IBIS 18 / 7739
5
(HPO:0008323) Abnormal light- and dark-adapted electroretinogram 16505158 IBIS 5 / 7739
6
(HPO:0000548) Cone/cone-rod dystrophy 47 / 7739
7
(HPO:0000545) Myopia 12807962 IBIS 286 / 7739
8
(HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In a large Finnish family with CORDX3, previously reported by Jalkanen et al. (2003), Jalkanen et al. (2006) identified a splice site mutation in the CACNA1F gene (300110.0007). The mutation cosegregated completely with the disease phenotype in the ...