- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 6/6. (PMID:24958875)
- Abnormal vestibular function (HP:0001751): An abnormality of the functioning of the vestibular apparatus. Evidence: PCS. Frequency: 0/6. (PMID:24958875)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 0/6. (PMID:24958875)
- Absent brainstem auditory responses (HP:0004463): Lack of measurable response to stimulation of auditory evoked potentials. Evidence: PCS. Frequency: 6/6. (PMID:24958875)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 0/6. (PMID:24958875)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:24958875)
- Positive Romberg sign (HP:0002403): The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception. Evidence: PCS. Frequency: 0/6. (PMID:24958875)
- Prelingual sensorineural hearing impairment (HP:0000399): A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech. Evidence: PCS. Frequency: 6/6. Onset: Congenital onset (HP:0003577). (PMID:24958875)
These phenotypes are associated with the disease autosomal recessive nonsyndromic hearing loss 104 (OMIM:616515).