- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2717)
- Bifid nasal tip (HP:0000456): A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2717)
- Anophthalmia (HP:0000528): Absence of the globe or eyeball. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2717)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2717)
- Nasolacrimal duct obstruction (HP:0000579): Blockage of the lacrimal duct. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2717)
- Upper eyelid coloboma (HP:0000636): A short discontinuity of the margin of the upper eyelid. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2717)
- Cryptophthalmos (HP:0001126): Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2717)
- Anteriorly placed anus (HP:0001545): Anterior malposition of the anus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2717)
- Anal stenosis (HP:0002025): Abnormal narrowing of the anal opening. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2717)
- Abnormal hair pattern (HP:0010720): An abnormality of the distribution of hair growth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2717)
These phenotypes are associated with the disease Oculotrichoanal syndrome (ORPHA:2717).