Phenotypes associated with the disease coloboma, ocular, autosomal recessive (OMIM:216820):
- Lens subluxation (HP:0001132): Partial dislocation of the lens of the eye. Evidence: PCS. Frequency: 1/3. (PMID:24412933)
- 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: 2/3. (PMID:24412933)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 3/3. (PMID:24412933)
- Retinal coloboma (HP:0000480): A notch or cleft of the retina or choroid, located vertically below the optic disc. Evidence: PCS. Frequency: 3/3. Onset: Congenital onset (HP:0003577). (PMID:24412933)
- Hypertropia (HP:0025586): A type of strabismus characterized by permanent upward deviation of the visual axis of one eye. Evidence: PCS. Frequency: 1/3. (PMID:24412933)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 3/3. (PMID:24412933)
- 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:24412933)
- Iris coloboma (HP:0000612): A coloboma of the iris. Evidence: PCS. Frequency: 2/3. Onset: Congenital onset (HP:0003577). (PMID:24412933)
- Esotropia (HP:0000565): A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. Evidence: PCS. Frequency: 2/3. (PMID:24412933)
- Exotropia (HP:0000577): A form of strabismus with one or both eyes deviated outward. Evidence: PCS. Frequency: 1/3. (PMID:24412933)
- Optic disc coloboma (HP:0000588): A cleft of the optic nerve that extends inferiorly. Evidence: PCS. Frequency: 3/3. (PMID:24412933)