- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 18/18. (PMID:17503326)
- Abnormal vestibular function (HP:0001751): An abnormality of the functioning of the vestibular apparatus. Evidence: PCS. Frequency: 0/18. (PMID:17503326)
- 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. Frequency: 18/18. Onset: Juvenile onset (HP:0003621). (PMID:17503326)
- Tinnitus (HP:0000360): Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. Evidence: PCS. Frequency: 0/18. (PMID:17503326)
- Abnormal inner ear morphology (HP:0011390): A structural anomaly of the internal part of the ear. Evidence: PCS. Frequency: 0/1. (PMID:17503326)
- 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:17503326)
These phenotypes are associated with the disease autosomal dominant nonsyndromic hearing loss 44 (OMIM:607453).