mosaic variegated aneuploidy syndrome 1

Summary
Definition
A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15.
Super Class
autosomal recessive disease mosaic variegated aneuploidy syndrome
External Links
Disease Ontology
DOID:0080141
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5067 CNTN3 contactin 3
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9P232 Contactin-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: August 19, 2024