mosaic variegated aneuploidy syndrome 3

Term ID

DOID:0080689

Synonyms

Definition

A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein. https://pubmed.ncbi.nlm.nih.gov/28553959/

References

• OMIM:617598

Ontology

Human Disease   ( DOID:0080689 )