Phenotypes associated with the disease corneal dystrophy-perceptive deafness syndrome (OMIM:217400):
- Opacification of the corneal stroma (HP:0007759): Reduced transparency of the stroma of cornea. Evidence: IEA. (OMIM:217400)
- 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. (PMID:17220209)
- Corneal dystrophy (HP:0001131): The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. Evidence: IEA. (OMIM:217400)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. (PMID:17220209)
- 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:11836359)
- Reduced visual acuity (HP:0007663). Evidence: PCS. (PMID:17220209)
- Pediatric onset (HP:0410280): Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset. Evidence: PCS. (PMID:17220209)