Phenotypes associated with the disease nystagmus 7, congenital, autosomal dominant (OMIM:614826):
- 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: TAS. (OMIM:614826)
- Horizontal pendular nystagmus (HP:0007811): Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity. Evidence: TAS. Onset: Congenital onset (HP:0003577). (OMIM:614826)