Phenotypes associated with the disease ptosis, hereditary congenital 2 (OMIM:300245):
- 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:300245)
- X-linked dominant inheritance (HP:0001423): A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. Evidence: TAS. (OMIM:300245)
- Compensatory chin elevation (HP:0001477): A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement. Evidence: IEA. (OMIM:300245)