Version: 8.0.0
Date: Tue Jan 28 2025
juvenile amyotrophic lateral sclerosis type 27
DOID:0081381
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
None
Cross References
Parent Terms
Child Terms
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Sources of Associations

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