Phenotypes associated with the disease question mark ears, isolated (OMIM:612798):
- Hearing abnormality (HP:0000364): An abnormality of the sensory perception of sound. Evidence: PCS. Frequency: 0/2. (PMID:23315542)
- Question mark ear (HP:0030022): Cleft between the helix and the lobe. Evidence: PCS. (PMID:23315542)
- 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:23315542)