Term Name: juvenile amyotrophic lateral sclerosis type 27
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 )

Relationships
is a type of: amyotrophic lateral sclerosis autosomal dominant disease