chromosome 22q11.2 deletion syndrome, distal

Summary
Synonym
  • DiGeorge syndrome and Velocardiofacial syndrome
  • distal 22q11.2 microdeletion syndrome
Definition
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome.
Super Class
chromosomal deletion syndrome
External Links
Disease Ontology
DOID:0060413
Mondo Disease Ontology
MeSH
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
5297 PI4KA phosphatidylinositol 4-kinase alpha
6576 SLC25A1 solute carrier family 25 member 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