- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1067)
- 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:1067)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1067)
- 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:1067)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1067)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1067)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1067)
- Hypopigmentation of hair (HP:0005599). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1067)
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1067)
- Aplasia/Hypoplasia of the iris (HP:0008053): Absence or underdevelopment of the iris. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1067)
- Persistent pupillary membrane (HP:0009917): The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1067)
These phenotypes are associated with the disease Aniridia-ptosis-intellectual disability-familial obesity syndrome (ORPHA:1067).