Total congenital cataract
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 2 |
| OrphanetNr: | 98994 |
| OMIM Id: |
116100
116600 116700 302200 601547 615188 615274 |
| ICD-10: |
Q12.0 |
| UMLs: |
C0266539 |
| MeSH: |
C535341 |
| MedDRA: |
|
| Snomed: |
29590001 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
|
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Non-syndromic congenital cataract
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0010922) | Membranous cataract | 2 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|