Term Name: autosomal recessive distal hereditary motor neuronopathy 8
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 )

Relationships
is a type of: autosomal recessive distal hereditary motor neuronopathy