Non-syndromic congenital cataract
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 2 |
| OrphanetNr: | 91492 |
| OMIM Id: |
115650
115665 115700 115800 115900 116100 116200 116300 116400 116600 116700 116800 212500 302200 600881 601202 601371 601547 601885 604219 604307 605387 605728 605749 607304 609376 609741 610019 610202 610425 610623 611544 611597 612968 613763 614691 615188 615274 615277 |
| ICD-10: |
Q12.0 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonsyndromic developmental defect of the eye
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Rare non-syndromic cataract -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0001134) | Anterior polar cataract | 8 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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