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 ...