- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:83461)
- Developmental glaucoma (HP:0001087): Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:83461)
- Congenital aphakia (HP:0007707): Absence of the crystalline lens of the eye as a result of a developmental defect. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:83461)
- Aplasia/Hypoplasia affecting the anterior segment of the eye (HP:0008062): Absence or underdevelopment of the anterior segment of the eye. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:83461)
- Abnormality of vision (HP:0000504): Abnormality of eyesight (visual perception). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83461)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83461)
- Optic disc coloboma (HP:0000588): A cleft of the optic nerve that extends inferiorly. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83461)
- Sclerocornea (HP:0000647): A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83461)
- Retinal dysplasia (HP:0007973): Abnormal growth and differentiation, structure and appearance of the retina present from birth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83461)
- Anterior synechiae of the anterior chamber (HP:0011483): Adhesions between the iris and the cornea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83461)
- Aniridia (HP:0000526): Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83461)
- Phthisis bulbi (HP:0000667): Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83461)
- Corneal perforation (HP:0100583): A rupture of the cornea through which a portion of the iris protrudes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83461)
These phenotypes are associated with the disease Congenital primary aphakia (ORPHA:83461).