- Basal ganglia gliosis (HP:0006999, a Human Phenotype Ontology term): Focal proliferation of glial cells in the basal ganglia. Evidence: IEA. (OMIM:603218)
- Incoordination (HP:0002311, a Human Phenotype Ontology term): A deficit in coordination of muscle movements. Coordination is defined as the orchestrated movement of multiple body parts as required to accomplish intended actions, like walking. Evidence: TAS. (OMIM:603218)
- Dysmetria (HP:0001310, a Human Phenotype Ontology term): A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. Evidence: IEA. (OMIM:603218)
- Dysarthria (HP:0001260, a Human Phenotype Ontology term): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: IEA. (OMIM:603218)
- Global brain atrophy (HP:0002283, a Human Phenotype Ontology term): Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size. Evidence: IEA. (OMIM:603218)
- Rigidity (HP:0002063, a Human Phenotype Ontology term): Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. Evidence: IEA. (OMIM:603218)
- Chorea (HP:0002072, a Human Phenotype Ontology term): Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. Evidence: IEA. (OMIM:603218)
- Mania (HP:0100754, a Human Phenotype Ontology term): A state of abnormally elevated or irritable mood, arousal, and/or energy levels. Evidence: PCS. (PMID:10581230)
- Depression (HP:0000716, a Human Phenotype Ontology term): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: PCS. (PMID:10581230)
- 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: PCS. (PMID:10581230)
- Aggressive behavior (HP:0000718, a Human Phenotype Ontology term): Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). Evidence: IEA. (OMIM:603218)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 11/11. (PMID:10581230)
- Anxiety (HP:0000739, a Human Phenotype Ontology term): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: IEA. (OMIM:603218)
- Restlessness (HP:0000711, a Human Phenotype Ontology term): A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior. Evidence: IEA. (OMIM:603218)
- Unsteady gait (HP:0002317, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:603218)
- Delusion (HP:0000746, a Human Phenotype Ontology term): A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent: (1) they are held with an exceptional level of conviction, accompanied by an unparalleled subjective certainty; (2) there is an inability to consider alternative experiences or compelling counter-arguments; (3) the content of the belief is impossible. Evidence: IEA. (OMIM:603218)
- Personality changes (HP:0000751, a Human Phenotype Ontology term): An abnormal shift in patterns of thinking, acting, or feeling. Evidence: IEA. (OMIM:603218)
- 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:10581230)
These phenotypes are associated with the disease Huntington disease-like 1 (OMIM:603218, an entry in Online Mendelian Inheritance in Man).