Dandy-Walker malformation - facial hemangioma
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 6 |
| OrphanetNr: | 1564 |
| OMIM Id: |
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| ICD-10: |
Q03.1 |
| 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: |
Unknown [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndrome with a Dandy-Walker malformation as major feature
-Rare developmental defect during embryogenesis -Rare neurologic disease Vascular tumor -Rare circulatory system disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0001305) | Dandy-Walker malformation | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0000161) | Median cleft lip | Very frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0001048) | Cavernous hemangioma | Very frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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