| Metadata | |
|---|---|
| ID | DOID:0111827 |
| Name | X-linked spinal muscular atrophy 2 |
| Definition | A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3. https://ghr.nlm.nih.gov/condition/x-linked-infantile-spinal-muscular-atrophy, https://www.ncbi.nlm.nih.gov/pubmed/18179898, https://www.ncbi.nlm.nih.gov/pubmed/3341327 |
| Xrefs |
SNOMEDCT_US_2023_03_01:719836007 |
| Subsets |
DO_rare_slim |
| Synonyms |
infantile-onset X-linked spinal muscular atrophy [EXACT] SMAX2 [EXACT] spinal muscular atrophy with arthrogryposis [EXACT] X-linked distal arthrogryposis multiplex congenita [EXACT] X-linked spinal muscular atrophy type 2 [EXACT] |
| Parent Relationships |