COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr:
OMIM Id: 216820
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000577) Exotropia rare [HPO:skoehler] 43 / 7739
2
 (HPO:0001132) Lens subluxation rare [HPO:skoehler] 13 / 7739
3
 (HPO:0000505) Visual impairment 297 / 7739
4
 (HPO:0000589) Coloboma 47 / 7739
5
 (HPO:0007663) Reduced visual acuity 100 / 7739
6
 (HPO:0000565) Esotropia rare [HPO:skoehler] 58 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: