Phenotypes associated with the disease branchiootic syndrome 3 (OMIM:608389):
- Preauricular pit (HP:0004467): Small indentation anterior to the insertion of the ear. Evidence: PCS. (PMID:10762556)
- Preauricular skin tag (HP:0000384): A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). Evidence: TAS. (OMIM:608389)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. (PMID:10762556)
- Branchial cyst (HP:0009796): A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region. Evidence: TAS. (OMIM:608389)
- Lacrimal duct stenosis (HP:0007678): Narrowing of a tear duct (lacrimal duct). Evidence: TAS. (OMIM:608389)
- 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:10762556)
- Commissural lip pit (HP:0002710): A depression located at an oral commissure. Evidence: PCS. (PMID:10762556)