DISEASES

Disease-gene associations mined from literature

Human genes for X-linked distal spinal muscular atrophy 3

X-linked distal spinal muscular atrophy 3 [DOID:0111196]

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:  X-linked distal spinal muscular atrophy 3,  DOID:0111196,  Xlinked distal spinal muscular atrophy 3,  ATP7A-related distal motor neuropathy,  DSMAX ...