- Hyporeflexia (HP:0001265, a Human Phenotype Ontology term): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: IEA. (OMIM:134300)
- Anisocoria (HP:0009916, a Human Phenotype Ontology term): Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. Evidence: IEA. (OMIM:134300)
- Autosomal dominant inheritance (HP:0000006, 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 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:134300)
These phenotypes are associated with the disease facial spasm (OMIM:134300, an entry in Online Mendelian Inheritance in Man).