Term Name: X-linked distal spinal muscular atrophy 3
Synonyms: ATP7A-related distal motor neuropathy, DSMAX, SMAX3, X-linked dHMN3, X-linked distal hereditary motor neuropathy type 3, X-linked dSMA3, X-linked recessive distal spinal muscular atrophy
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.
Ontology: Human Disease [DOID:0111196]   ( DOID:0111196 )

Relationships
is a type of: spinal muscular atrophy X-linked recessive disease