- Hip dysplasia (HP:0001385, a Human Phenotype Ontology term): The presence of developmental dysplasia of the hip. Evidence: IEA. (OMIM:109000)
- Short stature (HP:0004322, a Human Phenotype Ontology term): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: IEA. (OMIM:109000)
- Attached earlobe (HP:0009907, a Human Phenotype Ontology term): Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward. Evidence: TAS. (OMIM:109000)
- Dislocated radial head (HP:0003083, a Human Phenotype Ontology term): A dislocation of the head of the radius from its socket in the elbow joint. Evidence: TAS. (OMIM:109000)
- 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:109000)
These phenotypes are associated with the disease auriculoosteodysplasia (OMIM:109000, an entry in Online Mendelian Inheritance in Man).