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MCID: HYD049
MIFTS: 17
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Hydrocephalus with Cerebellar Agenesis
Categories:
Eye diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Hydrocephalus with Cerebellar Agenesis:
Characteristics:Orphanet epidemiological data:58
hydrocephaly-cerebellar agenesis syndrome
Inheritance: X-linked recessive; Age of onset: Infancy; HPO:31Classifications:
ICD10:
33
Orphanet: 58
Rare neurological diseases
Rare eye diseases |
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1397 Definition A rare developmental defect during embryogenesis malformation syndrome characterized by congenital , non-communicating hydrocephalus , cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia , areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth and is fatal in the neonatal period. There have been no further descriptions in the literature since 1973. Visit the Orphanet disease page for more resources.
MalaCards based summary : Hydrocephalus with Cerebellar Agenesis, is also known as hydrocephaly-cerebellar agenesis syndrome. Affiliated tissues include cerebellum, brain and eye, and related phenotypes are cataract and intellectual disability
More information from OMIM:
307010
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Human phenotypes related to Hydrocephalus with Cerebellar Agenesis:58 31 (show all 6)
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MalaCards organs/tissues related to Hydrocephalus with Cerebellar Agenesis:40
Cerebellum,
Brain,
Eye
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Articles related to Hydrocephalus with Cerebellar Agenesis:
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Search
GEO
for disease gene expression data for Hydrocephalus with Cerebellar Agenesis.
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