Phenotypes associated with the disease foveal hypoplasia 1 (OMIM:136520):
- Congenital nystagmus (HP:0006934): Nystagmus dating from or present at birth. Evidence: IEA. (OMIM:136520)
- Presenile cataracts (HP:0007819): Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual. Evidence: IEA. (OMIM:136520)
- Hypoplasia of the fovea (HP:0007750): Underdevelopment of the fovea centralis. Evidence: IEA. (OMIM:136520)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: IEA. (OMIM:136520)
- 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: IEA. (OMIM:136520)