DISEASES

Disease-gene associations mined from literature

JensenLab

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