autosomal recessive distal hereditary motor neuronopathy 8

Term ID

DOID:0081427

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. https://pubmed.ncbi.nlm.nih.gov/32367058/

References

• OMIM:618912

Ontology

Human Disease   ( DOID:0081427 )