Term Name: | X-linked distal spinal muscular atrophy 3 |
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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 ) |