Dandy-Walker syndrome

Summary
Synonym
  • Atresia of foramina of Magendie and Luschka
Definition
A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle.
Super Class
cerebellar disease
External Links
Disease Ontology
DOID:2785
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 23 in total
Gene ID Gene Symbol Description Source
523 ATP6V1A ATPase H+ transporting V1 subunit A
1605 DAG1 dystroglycan 1
1717 DHCR7 7-dehydrocholesterol reductase
2218 FKTN fukutin
2683 B4GALT1 beta-1,4-galactosyltransferase 1
2719 GPC3 glypican 3
5373 PMM2 phosphomannomutase 2
7355 SLC35A2 solute carrier family 35 member A2
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
10329 RXYLT1 ribitol xylosyltransferase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024