- Cryptotia (HP:0011252): Invagination of the superior part of the auricle under a fold of temporal skin. Evidence: IEA. (OMIM:123557)
- Abnormality of the outer ear (HP:0000356): An abnormality of the external ear. Evidence: IEA. (OMIM:123557)
- 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:123557)
These phenotypes are associated with the disease cryptotia, familial (OMIM:123557).