visceral heterotaxy 10

Term ID

DOID:0051024

Synonyms

Definition

A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous mutation in the CFAP52 gene on chromosome 17p13. https://pubmed.ncbi.nlm.nih.gov/33139725/

References

• MIM:619607

Ontology

Human Disease   ( DOID:0051024 )