- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/2. (PMID:11524702)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: TAS. (OMIM:276902)
- Abnormal vestibular function (HP:0001751): An abnormality of the functioning of the vestibular apparatus. Evidence: PCS. Frequency: 1/2. (PMID:11524702)
- Visual field defect (HP:0001123). Evidence: TAS. Frequency: Frequent (HP:0040282). (OMIM:276902)
- 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: 2/2. (PMID:11524702)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/2. (PMID:11524702)
- 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:11524702)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 2/2. (PMID:11524702)
- Rod-cone dystrophy (HP:0000510): An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. Evidence: PCS. Frequency: 2/2. Onset: Juvenile onset (HP:0003621). (PMID:11524702)
These phenotypes are associated with the disease Usher syndrome type 3A (OMIM:276902).