Microcornea - glaucoma - absent frontal sinuses
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 12 |
| OrphanetNr: | 2536 |
| OMIM Id: |
156700
|
| ICD-10: |
Q15.8 |
| UMLs: |
C1834935 |
| MeSH: |
C537552 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| 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:0012368) | Flat face | Frequent [Orphanet] | 106 / 7739 | |||
|
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(HPO:0000311) | Round face | Frequent [Orphanet] | 104 / 7739 | |||
|
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(HPO:0100789) | Torus palatinus | Very frequent [Orphanet] | 6 / 7739 | |||
|
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(HPO:0002688) | Absent frontal sinuses | 12 / 7739 | ||||
|
|
(HPO:0000929) | Abnormality of the skull | Very frequent [Orphanet] | 53 / 7739 | |||
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(HPO:0000286) | Epicanthus | Frequent [Orphanet] | 371 / 7739 | |||
|
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(HPO:0000482) | Microcornea | Very frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0000501) | Glaucoma | Very frequent [Orphanet] | 180 / 7739 | |||
|
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(HPO:0000572) | Visual loss | Frequent [Orphanet] | 272 / 7739 | |||
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(HPO:0000505) | Visual impairment | Very frequent [Orphanet] | 297 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|