- Recurrent bronchiolitis (HP:0100501): An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis. Evidence: PCS. Frequency: 1/1. (PMID:19462466)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/1. (PMID:19462466)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: IEA. (OMIM:613021)
- Hyperpolarized transepithelial nasal potential difference (HP:6000100): Increased (more negative) voltage across the nasal epithelium. Evidence: PCS. Frequency: 0/1. (PMID:19462466)
- Abnormality of exocrine pancreas physiology (HP:0012092): A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes. Evidence: PCS. Frequency: 0/1. (PMID:19462466)
- Elevated sweat chloride (HP:0012236): An increased concentration of chloride in the sweat. Evidence: PCS. Frequency: 1/1. (PMID:19462466)
- 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: PCS. (PMID:19462466)
- Chronic bronchitis (HP:0004469): Chronic inflammation of the bronchi. Evidence: IEA. (OMIM:613021)
These phenotypes are associated with the disease bronchiectasis with or without elevated sweat chloride 2 (OMIM:613021).