Phenotypes associated with the disease isolated microphthalmia 6 (OMIM:613517):
- Retinal fold (HP:0008052): A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy. Evidence: IEA. (OMIM:613517)
- Ocular hypertension (HP:0007906): Intraocular pressure that is 2 standard deviations above the population mean. Evidence: PCS. Frequency: 3/9. (PMID:21850159)
- 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. Frequency: Occasional (HP:0040283). (OMIM:613517)
- High hypermetropia (HP:0008499): A severe form of hypermetropia with over +5.00 diopters. Evidence: PCS. Frequency: 9/9. (PMID:21850159)
- Amblyopia (HP:0000646): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: PCS. Frequency: 2/9. (PMID:21850159)
- 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:21397065)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Frequency: 9/9. (PMID:21850159)
- Scleral thickening (HP:0030823): Increased dimension of the sclera in the anterior-posterior axis. Evidence: TAS. (OMIM:613517)