- Abnormality of the ear (HP:0000598, a Human Phenotype Ontology term): An abnormality of the ear. Evidence: IEA. (OMIM:128600)
- Autosomal dominant inheritance (HP:0000006, 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 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:128600)
These phenotypes are associated with the disease ear malformation (OMIM:128600, an entry in Online Mendelian Inheritance in Man).