Version: 8.0.0
Date: Tue Jan 28 2025
X-linked spinal muscular atrophy 2
DOID:0111827
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • infantile-onset X-linked spinal muscular atrophy
  • SMAX2
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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