- Hypotropia (HP:0025584): A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open. Evidence: IEA. (OMIM:602078)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. (PMID:11600883)
- Restrictive external ophthalmoplegia (HP:0007936): Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. Evidence: PCS. (PMID:11600883)
- Congenital fibrosis of extraocular muscles (HP:0001491): Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements. Evidence: IEA. (OMIM:602078)
- Hypertropia (HP:0025586): A type of strabismus characterized by permanent upward deviation of the visual axis of one eye. Evidence: IEA. (OMIM:602078)
- 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: IEA. (OMIM:602078)
- 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:11600883)
- 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. (OMIM:602078)
- Bilateral ptosis (HP:0001488). Evidence: PCS. (PMID:11600883)
- Exotropia (HP:0000577): A form of strabismus with one or both eyes deviated outward. Evidence: PCS. (PMID:11600883)
These phenotypes are associated with the disease fibrosis of extraocular muscles, congenital, 2 (OMIM:602078).