KAT6B-related multiple congenital anomalies syndrome
MONDO:0036042Mondo
Findings
No curated finding names KAT6B-related multiple congenital anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- KAT6BHGNC:17582
- Definitive · ClinGen · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: KAT6B-related multiple congenital anomalies syndrome
- Also called
- KAT6B-related disorder