immunodeficiency-centromeric instability-facial anomalies syndrome 1
MONDO:0009454Mondo
Findings
No curated finding names immunodeficiency-centromeric instability-facial anomalies syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene.
Definition from the Mondo Disease Ontology (MONDO:0009454), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
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.
- DNMT3BHGNC:2979
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: immunodeficiency-centromeric instability-facial anomalies syndrome 1
- Also called
- DNMT3B immunodeficiency-centromeric instability-facial anomalies syndromeimmunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in DNMT3Bimmunodeficiency-centromeric instability-Facial anomalies syndrome type 1