OntologiesdoidclassesDOID:13137   
Werdnig-Hoffmann disease
http://purl.obolibrary.org/obo/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.

OMIM mapping confirmed by DO. [SN].

Also appears inbaoclo
Exact 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