autosomal recessive distal hereditary motor neuronopathy 8 (DOID:0081427)
Alliance: disease page
Synonyms: sorbitol dehydrogenase deficiency with peripheral neuropathy; SORDD
Alt IDs: OMIM:618912
Definition: An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21.