- Superior rectus atrophy (HP:0012242): Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe. Evidence: TAS. (OMIM:135700)
- 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: TAS. (OMIM:135700)
- 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: TAS. (OMIM:135700)
- Levator palpebrae superioris atrophy (HP:0012241): Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid. Evidence: TAS. (OMIM:135700)
- Esotropia (HP:0000565): A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. Evidence: TAS. (OMIM:135700)
- Bilateral ptosis (HP:0001488). Evidence: TAS. (OMIM:135700)
- Compensatory chin elevation (HP:0001477): A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement. Evidence: TAS. (OMIM:135700)
- Sensory exotropia (HP:0031721): A type of divergent strabismus (exotropia) that develops in a poorly seeing eye. Evidence: IEA. (OMIM:135700)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:14595441)
- Exotropia (HP:0000577): A form of strabismus with one or both eyes deviated outward. Evidence: TAS. (OMIM:135700)
- Secondary esotropia (HP:0031723): Convergent squint which follows loss or impairment of vision. Evidence: IEA. (OMIM:135700)
These phenotypes are associated with the disease congenital fibrosis of extraocular muscles type 1 (OMIM:135700).