Term Name: | autosomal dominant distal hereditary motor neuronopathy 11 |
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Synonyms: | |
Definition: | An autosomal dominant distal hereditary motor neuronopathy that is characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties and that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. |
Ontology: | Human Disease [DOID:0081400] ( DOID:0081400 ) |