Term Name: | autosomal recessive distal hereditary motor neuronopathy 8 |
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Synonyms: | sorbitol dehydrogenase deficiency with peripheral neuropathy |
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. |
Ontology: | Human Disease [DOID:0081427] ( DOID:0081427 ) |