Mosaic variegated aneuploidy syndrome
GPTKB entity
Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
chromosome number in cells
|
| gptkbp:alsoKnownAs |
MVA syndrome
|
| gptkbp:associatedWith |
gptkb:Wilms_tumor
gptkb:rhabdomyosarcoma leukemia |
| gptkbp:characterizedBy |
increased cancer risk
developmental delay microcephaly growth retardation mosaic aneuploidy |
| gptkbp:diagnosedBy |
karyotype analysis
genetic testing |
| gptkbp:firstDescribed |
1990s
|
| https://www.w3.org/2000/01/rdf-schema#label |
Mosaic variegated aneuploidy syndrome
|
| gptkbp:ICD-10_code |
Q99.8
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:BUB1B_gene
CEP57 gene TRIP13 gene |
| gptkbp:OMIM |
257300
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
intellectual disability
short stature congenital malformations |
| gptkbp:bfsParent |
gptkb:BubR1
|
| gptkbp:bfsLayer |
7
|