autosomal dominant distal hereditary motor neuronopathy 11 (DOID:0081400)
Alliance: disease page
Alt IDs: OMIM:620528
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.