Cerebellum agenesis - hydrocephaly
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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9
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OrphanetNr:
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1397
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OMIM Id:
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307010
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ICD-10:
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Q04.3
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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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X-linked recessive
[Orphanet]
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Age of onset:
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Infancy
[Orphanet]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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X-linked syndromic intellectual deficit
-Rare genetic disease
-Rare neurologic disease
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1
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(HPO:0000518)
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Cataract |
Very frequent [Orphanet]
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454 / 7739
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2
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(HPO:0002066)
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Gait ataxia |
Very frequent [Orphanet]
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327 / 7739
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3
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(HPO:0001252)
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Muscular hypotonia |
Very frequent [Orphanet]
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990 / 7739
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4
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(HPO:0000238)
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Hydrocephalus |
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278 / 7739
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5
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(HPO:0012758)
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Neurodevelopmental delay |
Very frequent [Orphanet]
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949 / 7739
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6
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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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7
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(HPO:0012642)
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Cerebellar agenesis |
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2 / 7739
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8
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(HPO:0001417)
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X-linked inheritance |
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173 / 7739
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9
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(OMIM)
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Absent foramina of Luschka and Magendie |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |