Phenotypes associated with the disease branchiootic syndrome 2 (OMIM:120502):
- Preauricular pit (HP:0004467): Small indentation anterior to the insertion of the ear. Evidence: TAS. (OMIM:120502)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. (OMIM:120502)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: TAS. (OMIM:120502)
- 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:120502)
- Commissural lip pit (HP:0002710): A depression located at an oral commissure. Evidence: TAS. (OMIM:120502)