Werdnig-Hoffmann disease
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].
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
class Information
has_dbxref
- GARD:7883
- ICD10CM:G12.0
- ICD9CM:335.0
- MESH:D014897
- MIM:253300
- NCI:C98670
- SNOMEDCT_US_2023_03_01:64383006
- UMLS_CUI:C0043116
has_obo_namespace
disease_ontology
in_subset