Phenotypes associated with the disease heterotaxy, visceral, 10, autosomal, with male infertility (OMIM:619607, an entry in Online Mendelian Inheritance in Man):
- Situs inversus totalis (HP:0001696, a Human Phenotype Ontology term): A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. Evidence: PCS. Frequency: 4/4. (PMID:33139725)
- Dextrocardia (HP:0001651, a Human Phenotype Ontology term): The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. Evidence: PCS. Frequency: 1/2. (PMID:25469542)
- Abdominal situs inversus (HP:0003363, a Human Phenotype Ontology term): A left-right reversal (or mirror reflection) of the anatomical location of the viscera of the abdomen. Evidence: PCS. Frequency: 2/2. (PMID:25469542)
- Male infertility (HP:0003251, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:33139725)
- Decreased nasal nitric oxide (HP:0033036, a Human Phenotype Ontology term): Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure. Evidence: PCS. Frequency: 1/6. (PMID:33139725;PMID:25469542)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:33139725)
- Recurrent otitis media (HP:0000403, a Human Phenotype Ontology term): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 2/2. (PMID:33139725)
- Cough (HP:0012735, a Human Phenotype Ontology term): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: PCS. Frequency: 1/1. (PMID:33139725)
- Chronic sinusitis (HP:0011109, a Human Phenotype Ontology term): A chronic form of sinusitis. Evidence: PCS. Frequency: 3/3. (PMID:33139725)