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Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
Summary
- Definition
- A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.
- Super Class
- autosomal dominant disease frontotemporal dementia
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000751 | Personality changes |
| HP:0011204 | EEG with continuous slow activity |
| HP:0002071 | Abnormality of extrapyramidal motor function |
| HP:0002427 | Expressive aphasia |
| HP:0000474 | Thickened nuchal skin fold |
| HP:0002354 | Memory impairment |
| HP:0007112 | Temporal cortical atrophy |
| HP:0001268 | Mental deterioration |
| HP:0012658 | Abnormal brain FDG positron emission tomography |
| HP:0002145 | Frontotemporal dementia |
