CORNEAL OPACIFICATION WITH OTHER OCULAR ANOMALIES

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 269400
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:0000568) Microphthalmia rare [HPO:skoehler] 183 / 7739
2
(HPO:0007700) Anterior segment dysgenesis rare [HPO:skoehler] 9 / 7739
3
(HPO:0000647) Sclerocornea 25 / 7739
4
(HPO:0007906) Increased intraocular pressure rare [HPO:skoehler] 30 / 7739
5
(HPO:0000482) Microcornea rare [HPO:skoehler] 102 / 7739
6
(HPO:0000557) Buphthalmos rare [HPO:skoehler] 16 / 7739
7
(HPO:0000518) Cataract rare [HPO:skoehler] 454 / 7739
8
(HPO:0000356) Abnormality of the outer ear 85 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Sclerocornea is a primary anomaly in which scleralization of a peripheral part of the cornea, or the entire corneal tissue, occurs. In the peripheral type, the affected area is vascularized with regular arcades of superficial scleral vessels. In ...