- Neoplasia of the nasopharynx (HP:0100630). Evidence: PCS. Frequency: 7/13. Onset: Young adult onset (HP:0011462). (PMID:26951679)
- 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: TAS. (OMIM:617075)
These phenotypes are associated with the disease nasopharyngeal carcinoma, susceptibility to, 3 (OMIM:617075).