mosaic variegated aneuploidy syndrome
Findings
No curated finding names mosaic variegated aneuploidy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.
Definition from the Mondo Disease Ontology (MONDO:0000141), read 2026-09-29. CC BY 4.0.
Features
64 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AscitesHPOHP:0001541
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- Very frequent (80% to 99% of cases)
- Corneal opacityHPOHP:0007957
- Very frequent (80% to 99% of cases)
- Dandy-Walker malformationHPOHP:0001305
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- Very frequent (80% to 99% of cases)
- GlaucomaHPOHP:0000501
- Very frequent (80% to 99% of cases)
- Increased nuchal translucencyHPOHP:0010880
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- MicrophthalmiaHPOHP:0000568
- Very frequent (80% to 99% of cases)
- Muscular dystrophyHPOHP:0003560
- Very frequent (80% to 99% of cases)
- PolyhydramniosHPOHP:0001561
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
Show the remaining 52
- VentriculomegalyHPOHP:0002119
- Very frequent (80% to 99% of cases)
- Abnormality of the eyeHPOHP:0000478
- Frequent (30% to 79% of cases)
- Abnormality of visionHPOHP:0000504
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
Genes
5 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- BUB1HGNC:1148
- Supportive · Orphanet · Autosomal dominant · 2021
- BUB1BHGNC:1149
- Supportive · Orphanet · Autosomal dominant · 2021
- BUB3HGNC:1151
- Supportive · Orphanet · Autosomal dominant · 2021
- CEP57HGNC:30794
- Supportive · Orphanet · Autosomal dominant · 2021
- TRIP13HGNC:12307
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: mosaic variegated aneuploidy syndrome
- Also called
- Warburton-Anyane-Yeboa syndrome