MCID: ISL028
MIFTS: 8

Isolated Cerebellar Vermis Hypoplasia

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Isolated Cerebellar Vermis Hypoplasia

MalaCards integrated aliases for Isolated Cerebellar Vermis Hypoplasia:

Name: Isolated Cerebellar Vermis Hypoplasia 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q04.3
Orphanet 58 ORPHA199630

Summaries for Isolated Cerebellar Vermis Hypoplasia

MalaCards based summary : Isolated Cerebellar Vermis Hypoplasia is related to dandy-walker syndrome and ocular motor apraxia. Affiliated tissues include brain.

Related Diseases for Isolated Cerebellar Vermis Hypoplasia

Diseases related to Isolated Cerebellar Vermis Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dandy-walker syndrome 11.4
2 ocular motor apraxia 10.1
3 apraxia 10.1
4 pathologic nystagmus 10.1

Symptoms & Phenotypes for Isolated Cerebellar Vermis Hypoplasia

Drugs & Therapeutics for Isolated Cerebellar Vermis Hypoplasia

Search Clinical Trials , NIH Clinical Center for Isolated Cerebellar Vermis Hypoplasia

Genetic Tests for Isolated Cerebellar Vermis Hypoplasia

Anatomical Context for Isolated Cerebellar Vermis Hypoplasia

MalaCards organs/tissues related to Isolated Cerebellar Vermis Hypoplasia:

40
Brain

Publications for Isolated Cerebellar Vermis Hypoplasia

Articles related to Isolated Cerebellar Vermis Hypoplasia:

# Title Authors PMID Year
1
8q13.1-q13.2 deletion associated with inferior cerebellar vermian hypoplasia and digital anomalies: a new syndrome? 61
25693585 2015
2
Familial congenital saccade initiation failure and isolated cerebellar vermis hypoplasia. 61
9881808 1998

Variations for Isolated Cerebellar Vermis Hypoplasia

Expression for Isolated Cerebellar Vermis Hypoplasia

Search GEO for disease gene expression data for Isolated Cerebellar Vermis Hypoplasia.

Pathways for Isolated Cerebellar Vermis Hypoplasia

GO Terms for Isolated Cerebellar Vermis Hypoplasia

Sources for Isolated Cerebellar Vermis Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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