mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition
MONDO:0859346Mondo
Findings
No curated finding names mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
19 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.
- Adenocarcinoma of the colonHPOHP:0040276
- 1 of 1 reported patient
- Cervix cancerHPOHP:0030079
- 1 of 1 reported patient
- Deeply set eyeHPOHP:0000490
- 1 of 1 reported patient
- Embryonal rhabdomyosarcomaHPOHP:0006743
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HammertoeHPOHP:0001765
- 1 of 1 reported patient
- HyperkeratosisHPOHP:0000962
- 1 of 1 reported patient
- LipomaHPOHP:0012032
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- MicrognathiaHPOHP:0000347
- 1 of 1 reported patient
- Midface retrusionHPOHP:0011800
- 1 of 1 reported patient
- Multinodular goiterHPOHP:0005987
- 1 of 1 reported patient
Show the remaining 7
- Multiple enchondromatosisHPOHP:0005701
- 1 of 1 reported patient
- Narrow foreheadHPOHP:0000341
- 1 of 1 reported patient
- NevusHPOHP:0003764
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- Pes cavusHPOHP:0001761
- 1 of 1 reported patient
- PilomatrixomaHPOHP:0030434
- 1 of 1 reported patient
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.
- MAD1L1HGNC:6762
- Limited · Ambry Genetics · Autosomal recessive · 2023