mosaic variegated aneuploidy syndrome 1
Findings
No curated finding names mosaic variegated aneuploidy syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene.
Definition from the Mondo Disease Ontology (MONDO:0009759), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Antenatal onset
HPO, annotations 2026-09-02
Features
11 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.
- Intrauterine growth retardationHPOHP:0001511
- 9 of 9 reported patients
- MicrocephalyHPOHP:0000252
- 9 of 9 reported patients
- Small for gestational ageHPOHP:0001518
- 9 of 9 reported patients
- Atrial septal defectHPOHP:0001631
- 2 of 10 reported patients
- Embryonal rhabdomyosarcomaHPOHP:0006743
- 2 of 10 reported patients
- SeizureHPOHP:0001250
- 2 of 10 reported patients
- TetraplegiaHPOHP:0002445
Genes
1 gene
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.
- BUB1BHGNC:1149
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: mosaic variegated aneuploidy syndrome 1
- Also called
- BUB1B mosaic variegated aneuploidy syndromemosaic variegated aneuploidy syndrome caused by mutation in BUB1BMosaic variegated aneuploidy syndrome type 1