MCID: CRB065
MIFTS: 4

Cerebellum Agenesis Hydrocephaly

Categories: Rare diseases

Aliases & Classifications for Cerebellum Agenesis Hydrocephaly

MalaCards integrated aliases for Cerebellum Agenesis Hydrocephaly:

Name: Cerebellum Agenesis Hydrocephaly 54
Hydrocephalus with Cerebellar Agenesis 54

Classifications:



Summaries for Cerebellum Agenesis Hydrocephaly

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1397Disease definitionThis syndrome is characterised by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported.EpidemiologyIt has been described in four patients from two families.Differential diagnosisAnalysis of muscle biopsy samples indicated that this syndrome is distinct from Marinesco-Sjögren syndrome.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cerebellum Agenesis Hydrocephaly, also known as hydrocephalus with cerebellar agenesis, is related to hydrocephalus with cerebellar agenesis. Affiliated tissues include cerebellum.

Related Diseases for Cerebellum Agenesis Hydrocephaly

Diseases related to Cerebellum Agenesis Hydrocephaly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hydrocephalus with cerebellar agenesis 12.4

Symptoms & Phenotypes for Cerebellum Agenesis Hydrocephaly

Drugs & Therapeutics for Cerebellum Agenesis Hydrocephaly

Search Clinical Trials , NIH Clinical Center for Cerebellum Agenesis Hydrocephaly

Genetic Tests for Cerebellum Agenesis Hydrocephaly

Anatomical Context for Cerebellum Agenesis Hydrocephaly

MalaCards organs/tissues related to Cerebellum Agenesis Hydrocephaly:

42
Cerebellum

Publications for Cerebellum Agenesis Hydrocephaly

Variations for Cerebellum Agenesis Hydrocephaly

Expression for Cerebellum Agenesis Hydrocephaly

Search GEO for disease gene expression data for Cerebellum Agenesis Hydrocephaly.

Pathways for Cerebellum Agenesis Hydrocephaly

GO Terms for Cerebellum Agenesis Hydrocephaly

Sources for Cerebellum Agenesis Hydrocephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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