Phenotypes associated with the disease familial congenital palsy of trochlear nerve (OMIM:136480):
- Superior oblique muscle weakness (HP:0025592): Decreased strength of the superior oblique muscle. Evidence: IEA. (OMIM:136480)
- Fourth cranial nerve palsy (HP:0007011): Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly. Evidence: IEA. (OMIM:136480)
- Abnormal visual fixation (HP:0025404): Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location. Evidence: PCS. (PMID:3985833)
- Impaired ocular adduction (HP:0000542): Reduced ability to move the eye in the direction of the nose. Evidence: PCS. (PMID:3985833)
- 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: IEA. (OMIM:136480)
- Abnormality of binocular vision (HP:0011514): An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth. Evidence: PCS. (PMID:3985833)