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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:0000711 | Restlessness |
| HP:0002446 | Astrocytosis |
| HP:0100315 | Lewy bodies |
| HP:0002381 | Aphasia |
| HP:0001300 | Parkinsonism |
| HP:0010526 | Dysgraphia |
| HP:0000739 | Anxiety |
| HP:0006892 | Frontotemporal cerebral atrophy |
| HP:0002186 | Apraxia |
