Microcornea - corectopia - macular hypoplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 5 |
| OrphanetNr: | 2535 |
| OMIM Id: |
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| ICD-10: |
Q15.8 |
| UMLs: |
C2931531 |
| MeSH: |
C537551 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Developmental defect of the eye
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Syndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
|
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(HPO:0000615) | Abnormality of the pupil | Frequent [Orphanet] | 39 / 7739 | |||
|
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(HPO:0000482) | Microcornea | Very frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0000510) | Rod-cone dystrophy | Occasional [Orphanet] | 266 / 7739 | |||
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(HPO:0000545) | Myopia | Very frequent [Orphanet] | 286 / 7739 | |||
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(HPO:0004760) | Congenital septal defect | Occasional [Orphanet] | 69 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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