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heterotaxia; heterotaxy; situs ambiguus
Pathology:
1) abnormal left-right axis formation
2) reversed left-right polarity of one or more organ systems
Genetics:
- associated with defects in SESN1 gene (putative)
- X-linked heterotaxia associated with defects in ZIC3 gene
Specific
X-linked heterotaxy
General
genetic syndrome (multisystem disorder)
developmental disorder
References
- UniProt :accession Q9Y6P5
- Wikipedia: Situs ambiguus
https://en.wikipedia.org/wiki/Situs_ambiguus
- Orphanet: Heterotaxia
http://www.orpha.net/static/GB/heterotaxia.html