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juvenile amyotrophic lateral sclerosis type 27
Summary
- Definition
- An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22.
- Super Class
- amyotrophic lateral sclerosis autosomal dominant disease
External Links
- Disease Ontology
- DOID:0081381
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003376 | Steppage gait |
| HP:0001265 | Hyporeflexia |
| HP:0003700 | Generalized amyotrophy |
| HP:0002650 | Scoliosis |
