- Mutism (HP:0002300): Complete lack of speech or verbal communication in a person despite attempts to engage in conversation. Mutism as a phenomena assumes the individual has previous capacity for speech and in the pediatric population it assumes that the person is past the age of typical language development. Evidence: IEA. (OMIM:607485)
- Decreased circulating progranulin concentration (HP:6001187): The concentration of progranulin in the blood circulation is below the lower limit of normal. Evidence: PCS. (PMID:29053785)
- Frontotemporal dementia (HP:0002145): A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders. Evidence: IEA. (OMIM:607485)
- Cerebral cortical atrophy (HP:0002120): Atrophy of the cortex of the cerebrum. Evidence: IEA. (OMIM:607485)
- Apraxia (HP:0002186): A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements. Evidence: IEA. (OMIM:607485)
- Neurofibrillary tangles (HP:0002185): Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form. Evidence: IEA. (OMIM:607485)
- Aphasia (HP:0002381): An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. Evidence: TAS. Frequency: 20/20. (OMIM:607485)
- Hallucinations (HP:0000738): 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: IEA. (OMIM:607485)
- Progressive language deterioration (HP:0007064): Progressive loss of previously present language abilities. Evidence: IEA. (OMIM:607485)
- Disinhibition (HP:0000734): Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment. Evidence: IEA. (OMIM:607485)
- Agitation (HP:0000713): A state of excessive motor activity that is associated with mental distress or a feeling of substantial unease or inner tension. Distinguished from restlessness by the increased level of emotional distress and negative intensity of the experience. Agitation has a significant level of physical activity that is typically threatening to the self or others. Evidence: IEA. (OMIM:607485)
- Personality changes (HP:0000751): An abnormal shift in patterns of thinking, acting, or feeling. Evidence: IEA. (OMIM:607485)
- Hyperorality (HP:0000710): Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects. Evidence: IEA. (OMIM:607485)
- Lateral ventricle dilatation (HP:0006956). Evidence: IEA. (OMIM:607485)
- Parkinsonism (HP:0001300): 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: IEA. (OMIM:607485)
- Memory impairment (HP:0002354): An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. Evidence: IEA. (OMIM:607485)
- Amplification of sexual behavior (HP:5200321): An abnormal increase of libido (sexual desire), typically accompanied by a higher frequency of sexual activity compared to from a person's previous norm. Evidence: TAS. (OMIM:607485)
- Perseverative thought (HP:0030223): The repetitive production of the same response to different commands. Evidence: TAS. (OMIM:607485)
- Polyphagia (HP:0002591): A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. Evidence: IEA. (OMIM:607485)
- Gliosis (HP:0002171): Gliosis is the focal proliferation of glial cells in the central nervous system. Evidence: IEA. (OMIM:607485)
- Lewy bodies (HP:0100315). Evidence: IEA. (OMIM:607485)
- Neuronal loss in central nervous system (HP:0002529). Evidence: IEA. (OMIM:607485)
- Repetitive compulsive behavior (HP:0008762). Evidence: IEA. (OMIM:607485)
- Apathy (HP:0000741): Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy. Evidence: IEA. (OMIM:607485)
- 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:607485)
These phenotypes are associated with the disease GRN-related frontotemporal lobar degeneration with Tdp43 inclusions (OMIM:607485).