| Metadata | |
|---|---|
| ID | DOID:13137 |
| Name | Werdnig-Hoffmann disease |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/?term=10700541 |
| Xrefs |
SNOMEDCT_US_2023_03_01:64383006 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
hereditary motor neuropathy proximal type I [EXACT] HMN (Hereditary motor Neuropathy) Proximal type I [EXACT] infantile muscular atrophy [EXACT] progressive muscular atrophy of infancy [EXACT] SMA1 [EXACT] Spinal muscular atrophy 1 [EXACT] |
| Parent Relationships |