Congenital hydrocephalus
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 6 |
| OrphanetNr: | 2185 |
| OMIM Id: |
236600
615219 |
| ICD-10: |
Q03 |
| 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: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic nonsyndromic central nervous system malformation
-Rare genetic disease Nonsyndromic central nervous system malformation -Rare developmental defect during embryogenesis -Rare neurologic disease |
Symptom Information:
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0003577) | Congenital onset | 133 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | Very frequent [Orphanet] | 278 / 7739 | |||
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(HPO:0002119) | Ventriculomegaly | 253 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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