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amyotrophic lateral sclerosis type 24
Summary
- Definition
- An amyotrophic lateral sclerosis that is characterized by adult-onset loss of motor neurons and that has_material_basis_in heterozygous mutation in the NEK1 gene on chromosome 4q33.
- Super Class
- amyotrophic lateral sclerosis autosomal dominant disease
External Links
- Disease Ontology
- DOID:0081378
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002145 | Frontotemporal dementia |
| HP:0000716 | Depression |
| HP:0002360 | Sleep abnormality |
| HP:0001257 | Spasticity |
| HP:0000712 | Emotional lability |
| HP:0002017 | Nausea and vomiting |
| HP:0002463 | Language impairment |
| HP:0003487 | Babinski sign |
| HP:0012378 | Fatigue |
| HP:0003324 | Generalized muscle weakness |
