Human genes for Werdnig-Hoffmann disease
Werdnig-Hoffmann disease [DOID:13137]
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.
Synonyms: Werdnig-Hoffmann disease, DOID:13137, WerdnigHoffmann disease, Werdnig-Hoffmann disorder, Werdnig-Hoffmann syndrome ...
Linkouts: OMIM