- Lewy bodies (HP:0100315, a Human Phenotype Ontology term). Evidence: PCS. (PMID:14593171)
- Parkinsonism (HP:0001300, a Human Phenotype Ontology term): Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. Evidence: TAS. (OMIM:605543)
- Orthostatic hypotension (HP:0001278, a Human Phenotype Ontology term): A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. Evidence: TAS. (OMIM:605543)
- Middle age onset (HP:0003596, a Human Phenotype Ontology term): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: IEA. (OMIM:605543)
- Abnormal autonomic nervous system physiology (HP:0012332, a Human Phenotype Ontology term): A functional abnormality of the autonomic nervous system. Evidence: TAS. (OMIM:605543)
- Hallucinations (HP:0000738, a Human Phenotype Ontology term): Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space. Evidence: TAS. (OMIM:605543)
- Dementia (HP:0000726, a Human Phenotype Ontology term): A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. Evidence: TAS. (OMIM:605543)
- Paranoia (HP:0011999, a Human Phenotype Ontology term): The feeling and belief that one is being targeted or is a focus of negative or untoward actions, overt or covert, from others. The affected individual expresses a concern that people are in general against the individual and are engaging in subtle behaviors to make things difficult for them. The origins of such thinking may arise from real events and become amplified over time. Paranoia may also arise in the absence of any action or interaction between the person and their environment. Evidence: TAS. (OMIM:605543)
- Weight loss (HP:0001824, a Human Phenotype Ontology term): Reduction of total body weight. Evidence: TAS. (OMIM:605543)
- 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: PCS. (PMID:14593171)
- Rapidly progressive (HP:0003678, a Human Phenotype Ontology term): Applies to a disease manifestation that quickly increases in scope or severity over the course of time. Evidence: IEA. (OMIM:605543)
These phenotypes are associated with the disease autosomal dominant Parkinson disease 4 (OMIM:605543, an entry in Online Mendelian Inheritance in Man).