Term Name:	Werdnig-Hoffmann disease
Synonyms:	hereditary motor neuropathy proximal type I, HMN (Hereditary motor Neuropathy) Proximal type I, infantile muscular atrophy, progressive muscular atrophy of infancy, SMA1, Spinal muscular atrophy 1
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.
Ontology:	Human Disease [DOID:13137]   ( DOID:13137 )