Phenotypes associated with the disease Usher syndrome type 2C (OMIM:605472, an entry in Online Mendelian Inheritance in Man):
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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: IEA. (OMIM:605472)
- Rod-cone dystrophy (HP:0000510, a Human Phenotype Ontology term): 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: IEA. (OMIM:605472)
- Congenital sensorineural hearing impairment (HP:0008527, a Human Phenotype Ontology term): A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. Evidence: IEA. (OMIM:605472)