Phenotypes associated with the disease cataract 48 (OMIM:618415):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 12/12. (PMID:30290152)
- 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: 12/12. Onset: Congenital onset (HP:0003577). (PMID:30290152)
- Miosis (HP:0000616): Abnormal (non-physiological) constriction of the pupil. Evidence: PCS. Frequency: 2/12. (PMID:30290152)
- Pendular nystagmus (HP:0012043): Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction. Evidence: PCS. Frequency: 2/12. (PMID:30290152)
- 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: 4/12. (PMID:30290152)
- 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:30290152)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 11/12. (PMID:30290152)
- Exotropia (HP:0000577): A form of strabismus with one or both eyes deviated outward. Evidence: PCS. Frequency: 4/12. (PMID:30290152)