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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)
