- Prominent occiput (HP:0000269): Increased convexity of the occiput (posterior part of the skull). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1259)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1259)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1259)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1259)
- Iris coloboma (HP:0000612): A coloboma of the iris. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1259)
- Ectopia lentis (HP:0001083): Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1259)
- Abnormal retinal pigmentation (HP:0007703): Any deviation from the normal pigmentation of the retina. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1259)
- Abnormal helix morphology (HP:0011039): An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1259)
- Palpebral edema (HP:0100540): Edema in the region of the eyelids. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1259)
- Fingernail dysplasia (HP:0100798): An abnormality of the development of the fingernails. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1259)
These phenotypes are associated with the disease Blepharoptosis-myopia-ectopia lentis syndrome (ORPHA:1259).