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Human Disease

X-linked spinal muscular atrophy 2

Term ID
DOID:0111827
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. (3)
References
Ontology
Human Disease   ( DOID:0111827 )
Relationships
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Genes Involved
Zebrafish Models