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Huntington's disease-like 1
Summary
- Synonym
-
- HDL1
- HLN1
- Huntington disease-like 1
- Huntington-like neurodegenerative disorder 1
- autosomal dominant Huntington-like neurodegenerative disorder
- early-onset prion disease with prominent psychiatric features
- Definition
- A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13.
- Super Class
- prion disease
External Links
- Disease Ontology
- DOID:0090103
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000746 | Delusion |
| HP:0000750 | Delayed speech and language development |
| HP:0001250 | Seizure |
| HP:0001260 | Dysarthria |
| HP:0001272 | Cerebellar atrophy |
| HP:0001288 | Gait disturbance |
| HP:0001290 | Generalized hypotonia |
| HP:0001310 | Dysmetria |
| HP:0001350 | Slurred speech |
| HP:0001824 | Weight loss |
