mosaic variegated aneuploidy syndrome 4
MONDO:0859329Mondo
Findings
No curated finding names mosaic variegated aneuploidy syndrome 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
3 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.
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- Mild global developmental delayHPOHP:0011342
- 2 of 2 reported patients
- Abnormality of chromosome stabilityHPOHP:0003220
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.
- CENATACHGNC:30460
- Limited · Ambry Genetics · Autosomal recessive · 2023