X-linked spinal muscular atrophy 2 (DOID:0111827)
Alliance: disease page
Synonyms: infantile-onset X-linked spinal muscular atrophy; SMAX2; spinal muscular atrophy with arthrogryposis; X-linked distal arthrogryposis multiplex congenita; X-linked spinal muscular atrophy type 2
Alt IDs: OMIM:301830, MESH:C535380, ORDO:1145, UMLS_CUI:C1844934
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.