distal hereditary motor neuronopathy type 5A (Q66084900)
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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
Language | Label | Description | Also known as |
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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. |
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1 reference