Phenotypes associated with the disease ophthalmoplegia, familial total, with iris transillumination (OMIM:165098):
- Total ophthalmoplegia (HP:0007824): Paralysis of both the extrinsic and intrinsic ocular muscles. Evidence: IEA. (OMIM:165098)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: IEA. (OMIM:165098)
- Internal ophthalmoplegia (HP:0007942): Paralysis of the iris and ciliary apparatus. Evidence: IEA. (OMIM:165098)
- 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:165098)
- External ophthalmoplegia (HP:0000544): Paralysis of the external ocular muscles. Evidence: IEA. (OMIM:165098)
- Exotropia (HP:0000577): A form of strabismus with one or both eyes deviated outward. Evidence: IEA. (OMIM:165098)