Version: 8.0.0
Date: Tue Jan 28 2025
X-linked distal spinal muscular atrophy 3
DOID:0111196
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

X-linked distal spinal muscular atrophy 3

Definition
A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1.
Synonyms
  • ATP7A-related distal motor neuropathy
  • DSMAX
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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