Phenotypes associated with the disease nystagmus 3, congenital, autosomal dominant (OMIM:608345):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:9806847)
- Horizontal jerk nystagmus (HP:0007286): Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other. Evidence: PCS. Frequency: 3/3. (PMID:9806847)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 0/3. (PMID:9806847)
- 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:9806847)