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Metadata
ID	DOID:0081381
Name	juvenile amyotrophic lateral sclerosis type 27
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. https://pubmed.ncbi.nlm.nih.gov/34059824/
Xrefs	MIM:620285
Parent Relationships	is_a amyotrophic lateral sclerosis is_a autosomal dominant disease