Phenotypes associated with the disease myopia 23, autosomal recessive (OMIM:615431):
- 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:23830514)
- Reduced visual acuity (HP:0007663). Evidence: TAS. (OMIM:615431)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: PCS. (PMID:23830514)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. (PMID:23830514)
- Increased axial length of the globe (HP:0007800): Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean. Evidence: PCS. (PMID:23830514)