Isolated congenital megalocornea
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Congenital anterior megalophthalmia |
| Number of Symptoms | 3 |
| OrphanetNr: | 91489 |
| OMIM Id: |
249300
309300 |
| ICD-10: |
Q15.8 |
| 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: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Corneogoniodysgenesis
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Nonsyndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000485) | Megalocornea | 26 / 7739 | ||||
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(HPO:0001417) | X-linked inheritance | common [HPO:skoehler] | 173 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | rare [HPO:skoehler] | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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