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X-linked spinal muscular atrophy 2
Summary
- Synonym
-
- SMAX2
- X-linked distal arthrogryposis multiplex congenita
- X-linked spinal muscular atrophy type 2
- infantile-onset X-linked spinal muscular atrophy
- spinal muscular atrophy with arthrogryposis
- 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.
- Super Class
- X-linked recessive disease spinal muscular atrophy
External Links
- Disease Ontology
- DOID:0111827
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
