EVC2 GENE
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 6 |
| OrphanetNr: | |
| OMIM Id: |
607261
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| ICD-10: |
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| 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: | No data available. |
Symptom Information:
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(HPO:0001305) | Dandy-Walker malformation | rare [HPO:skoehler] | 79 / 7739 | |||
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(HPO:0000175) | Cleft palate | rare [HPO:skoehler] | 349 / 7739 | |||
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(HPO:0001162) | Postaxial hand polydactyly | 119 / 7739 | ||||
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(HPO:0001395) | Hepatic fibrosis | 67 / 7739 | ||||
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(HPO:0001408) | Bile duct proliferation | 22 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | rare [HPO:skoehler] | 278 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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