Phenotypes associated with the disease laterality defects, autosomal dominant (OMIM:601086):
- Heterotaxy (HP:0030853): An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. Evidence: TAS. (OMIM:601086)
- Situs inversus totalis (HP:0001696): A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. Evidence: IEA. (OMIM:601086)
- Growth abnormality (HP:0001507). Evidence: IEA. (OMIM:601086)
- Asplenia (HP:0001746): Absence (aplasia) of the spleen. Evidence: IEA. (OMIM:601086)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:601086)