Spina bifida - hypospadias
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 3 |
| OrphanetNr: | 3176 |
| OMIM Id: |
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| ICD-10: |
Q05.9 |
| 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: |
Other syndrome with a central nervous system malformation as major feature
-Rare developmental defect during embryogenesis -Rare neurologic disease Syndromic urogenital tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare urogenital disease |
Symptom Information:
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(HPO:0000047) | Hypospadias | Very frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0002414) | Spina bifida | Very frequent [Orphanet] | 47 / 7739 | |||
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(HPO:0010301) | Spinal dysraphism | Very frequent [Orphanet] | 14 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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