Phenotypes associated with the disease nanophthalmos 2 (OMIM:609549):
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: PCS. Frequency: 1/5. (PMID:15976030)
- Abnormality of corneal size (HP:0001120): Any abnormality of the size or morphology of the cornea. Evidence: PCS. Frequency: 0/5. (PMID:15976030)
- High hypermetropia (HP:0008499): A severe form of hypermetropia with over +5.00 diopters. Evidence: PCS. Frequency: 5/5. (PMID:15976030)
- 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:15976030)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Frequency: 5/5. (PMID:15976030)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 5/5. (PMID:15976030)
- Angle closure glaucoma (HP:0012109): A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact). Evidence: PCS. Frequency: 1/5. (PMID:15976030)