Phenotypes associated with the disease Duane retraction syndrome 3 with or without deafness (OMIM:617041):
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 3/14. (PMID:27181683)
- Palpebral fissure narrowing on adduction (HP:0000661). Evidence: PCS. (PMID:27181683)
- Impaired ocular abduction (HP:0000634): An impaired ability of the eye to move in the outward direction (towards the side of the head). Evidence: PCS. (PMID:27181683)
- Impaired ocular adduction (HP:0000542): Reduced ability to move the eye in the direction of the nose. Evidence: PCS. (PMID:27181683)
- Duane anomaly (HP:0009921): A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction. Evidence: PCS. (PMID:27181683)
- 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:27181683)