Kandori fleck retina

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr: 99179
OMIM Id: 228990
ICD-10: H35.5
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: Familial flecked retinopathy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000662) Nyctalopia 92 / 7739
2
 (OMIM) Abnormal pigment epithelium 1 / 7739
3
 (OMIM) Irregular variably-sized retinal flecks 1 / 7739
4
 (OMIM) Macula spared 2 / 7739
5
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
 (OMIM) Fleck retina 2 / 7739
7
 (OMIM) Mild night blindness 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: