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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:0001347 | Hyperreflexia |
| HP:0003324 | Generalized muscle weakness |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0003621 | Juvenile onset |
| HP:0002093 | Respiratory insufficiency |
| HP:0008954 | Intrinsic hand muscle atrophy |
| HP:0001308 | Tongue fasciculations |
| HP:0003323 | Progressive muscle weakness |
| HP:0011463 | Childhood onset |
| HP:0001761 | Pes cavus |
