(Q66084900)

English

distal hereditary motor neuronopathy type 5A

A distal hereditary motor neuronopathy type 5 that has material basis in heterozygous mutation in GARS on 7p14.3 or BSCL2 on 11q12.3.

  • distal spinal muscular atrophy type VA
  • distal HMN VA

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