- Eyelid retraction (HP:0500043): With the eyes in primary position, the sclera is visible above the superior corneal limbus. Evidence: IEA. Frequency: 20/20. (OMIM:151610;PMID:3767680)
- Abnormal eyelid morphology (HP:0000492): An abnormality of the eyelids. Evidence: IEA. (PMID:3767680)
- 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: PCS. (PMID:3767680)
- 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:151610)
- Abnormality of the eye (HP:0000478): Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Evidence: IEA. (OMIM:151610)
These phenotypes are associated with the disease levator-medial rectus synkinesis (OMIM:151610).