Human genes for juvenile spinal muscular atrophy
Juvenile spinal muscular atrophy [DOID:12376]
A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13.
Synonyms: juvenile spinal muscular atrophy, DOID:12376, juvenile spinal muscular atrophies, Kugelberg-Welander disease, SMA3 ...