Term Name:	X-linked spinal muscular atrophy 2
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
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.
Ontology:	Human Disease [DOID:0111827]   ( DOID:0111827 )