mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition

Term ID

DOID:0060982

Synonyms

Definition

A mosaic variegated aneuploidy syndrome that is characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood that has_material_basis_in compound heterozygous mutation in the MAD1L1 gene on chromosome 7p22. https://pubmed.ncbi.nlm.nih.gov/36322655/

References

• MIM:620189

Ontology

Human Disease   ( DOID:0060982 )