Port-wine nevi - mega cisterna magna - hydrocephalus
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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5
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OrphanetNr:
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2703
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OMIM Id:
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal dominant inheritance
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0001250)
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Seizures |
Occasional [Orphanet]
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1245 / 7739
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2
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(HPO:0001052)
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Nevus flammeus |
Very frequent [Orphanet]
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88 / 7739
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3
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(HPO:0002120)
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Cerebral cortical atrophy |
Very frequent [Orphanet]
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187 / 7739
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4
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(HPO:0002334)
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Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
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137 / 7739
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5
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(HPO:0000238)
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Hydrocephalus |
Frequent [Orphanet]
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278 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |