Congenital cornea plana
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 3 |
| OrphanetNr: | 53691 |
| OMIM Id: |
121400
217300 |
| ICD-10: |
Q13.4 |
| 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: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare hyperopia and astigmatism
-Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0007720) | Flat cornea | 6 / 7739 | ||||
|
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 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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