Phenotypes associated with the disease cone-rod dystrophy 12 (OMIM:612657):
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. (PMID:26702251)
- Color vision defect (HP:0000551): An anomaly in the ability to discriminate between or recognize colors. Evidence: PCS. (PMID:26702251)
- Abnormal light- and dark-adapted electroretinogram (HP:0008323): An abnormality of the combined rod-and-cone response on electroretinogram. Evidence: PCS. (PMID:26702251)
- Reduced visual acuity (HP:0007663). Evidence: PCS. (PMID:18654668)
- 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:26702251)
- Cone/cone-rod dystrophy (HP:0000548). Evidence: PCS. (PMID:18654668)
- Central scotoma (HP:0000603): An area of depressed vision located at the point of fixation and that interferes with central vision. Evidence: PCS. (PMID:26702251)
- Bull's eye maculopathy (HP:0011504): Progressive maculopathy characterized by concentric regions of hyper- and hypopigmentation, with an initial foveal sparing and whose appearance is said to resemble the central target of a dart board. Evidence: PCS. (PMID:26702251)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:18654668)