Term Name: | juvenile amyotrophic lateral sclerosis type 27 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0081381] ( DOID:0081381 ) |