- Abnormal vestibular function (HP:0001751): An abnormality of the functioning of the vestibular apparatus. Evidence: PCS. Frequency: 5/5. Onset: Infantile onset (HP:0003593). (PMID:29572253)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 5/5. (PMID:29572253)
- 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:29572253)
- Left ventricular hypertrophy (HP:0001712): Enlargement or increased size of the heart left ventricle. Evidence: PCS. Frequency: 2/5. (PMID:29572253)
- Drusen (HP:0011510): Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in the Bruch membrane of the eye. Evidence: PCS. Frequency: 5/5. (PMID:29572253)
- Optic disc pallor (HP:0000543): A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. Evidence: PCS. Frequency: 4/5. (PMID:29572253)
- 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: 5/5. Onset: Infantile onset (HP:0003593). (PMID:29572253)
These phenotypes are associated with the disease Usher syndrome, type 1M (OMIM:618632).