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left-right axis malformation
Genetics:
- associated with defects in ACVR2B
- associated with defects in LEFTY2/TGFB4
Clinical manifestations:
- loss of normal left-right asymmetry
- complete left-right asymmetry reversal imparts no deleterious consequences to the affected individual
- pulmonary isomerism
- randomization typically results in complex, often lethal heart malformations as well as abdominal abnormalities
- complete atrioventricular canal defect
- hypoplastic left ventricle
- interrupted inferior vena cava
Specific
situs inversus
General
genetic syndrome (multisystem disorder)
congenital anomaly (birth defect)
Database Correlations
OMIM 602730
References
UniProt :accession Q13705