Phenotypes associated with the disease congenital primary aphakia (OMIM:610256):
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: PCS. Frequency: 7/8. (PMID:21150893)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/7. (PMID:21150893)
- Congenital aphakia (HP:0007707): Absence of the crystalline lens of the eye as a result of a developmental defect. Evidence: TAS. (OMIM:610256)
- Ocular hypertension (HP:0007906): Intraocular pressure that is 2 standard deviations above the population mean. Evidence: IEA. (OMIM:610256)
- Microcornea (HP:0000482): A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. Evidence: TAS. (OMIM:610256)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 10/10. (PMID:21150893)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. (OMIM:610256)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 4/7. (PMID:21150893)
- Posterior synechiae of the anterior chamber (HP:0011484): Adhesions between the iris and the lens. Evidence: TAS. (OMIM:610256)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:21150893)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. (OMIM:610256)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 8/8. (PMID:21150893)
- Peters anomaly (HP:0000659): A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity. Evidence: PCS. Frequency: 1/8. (PMID:21150893)
- 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. (OMIM:610256)
- 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. (OMIM:610256)
- Coloboma (HP:0000589): A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. Evidence: IEA. (OMIM:610256)
- Anterior segment of eye aplasia (HP:0007779). Evidence: TAS. (OMIM:610256)