Phenotypes associated with the disease ophthalmoplegia totalis with ptosis and miosis (OMIM:258400, an entry in Online Mendelian Inheritance in Man):
- Strabismus (HP:0000486, a Human Phenotype Ontology term): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: IEA. (OMIM:258400)
- Miosis (HP:0000616, a Human Phenotype Ontology term): Abnormal (non-physiological) constriction of the pupil. Evidence: IEA. (OMIM:258400)
- Ptosis (HP:0000508, a Human Phenotype Ontology term): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: IEA. (OMIM:258400)
- Ophthalmoplegia (HP:0000602, a Human Phenotype Ontology term): Paralysis of one or more extraocular muscles that are responsible for eye movements. Evidence: IEA. (OMIM:258400)
- Amblyopia (HP:0000646, a Human Phenotype Ontology term): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: IEA. (OMIM:258400)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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: IEA. (OMIM:258400)