mosaic variegated aneuploidy syndrome

Summary
Definition
A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes.
Super Class
syndrome
Disease Ontology
DOID:0080688
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
23137 SMC5 structural maintenance of chromosomes 5
55719 SLF2 SMC5-SMC6 complex localization factor 2

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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