X-linked VACTERL association

Summary
Synonym
  • VACTERL association, X-linked with or without hydrocephalus
  • VACTERLX
Definition
A VACTERL association that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.3 or the FANCB gene on chromosome Xp22.2.
Super Class
VACTERL association X-linked recessive disease
Disease Ontology
DOID:0111766
Mondo Disease Ontology
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
22773 Zic3 zinc finger protein of the cerebellum 3

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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: December 9, 2024