acetyl-CoA acetyltransferase-2 deficiency
MONDO:0013548Mondo
Findings
No curated finding names acetyl-CoA acetyltransferase-2 deficiency 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.
- ACAT2HGNC:94
- Limited · Ambry Genetics · Autosomal recessive · 2018
- No Known Disease Relationship · ClinGen · Unknown · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: acetyl-CoA acetyltransferase-2 deficiency
- Also called
- ACAT2 deficiency, Isolated cases