Version: 8.0.0
Date: Tue Jan 28 2025
1 results
Disease Alleles: Tg(SMN2)2Hung (Mmu)

Werdnig-Hoffmann disease

Disease
Source: DOID:13137
Definition: A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13.