Cone rod dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr: 1872
OMIM Id: 120970
300476
300834
304020
600624
600977
601777
602093
603649
604116
604393
605549
608194
610283
610381
610478
612657
612775
613660
614500
615163
615374
ICD-10: H35.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2.5 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
X-linked recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Unclassified primitive or secondary maculopathy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000551) Abnormality of color vision 20 / 7739
2
 (HPO:0007663) Reduced visual acuity 100 / 7739
3
 (HPO:0000613) Photophobia Very frequent [Orphanet] 158 / 7739
4
 (HPO:0000618) Blindness 124 / 7739
5
 (HPO:0000548) Cone/cone-rod dystrophy 47 / 7739
6
 (HPO:0007994) Peripheral visual field loss 13 / 7739
7
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
8
 (HPO:0000533) Chorioretinal atrophy 24 / 7739
9
 (HPO:0001133) Constriction of peripheral visual field 33 / 7739
10
 (HPO:0000504) Abnormality of vision Very frequent [Orphanet] 22 / 7739
11
 (HPO:0000642) Red-green dyschromatopsia Frequent [Orphanet] 25 / 7739
12
 (HPO:0000662) Nyctalopia 92 / 7739
13
 (HPO:0000505) Visual impairment Occasional [Orphanet] 297 / 7739
14
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: