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Human Disease

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
Ontology
Human Disease   ( DOID:0081427 )
Relationships
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Genes Involved
Zebrafish Models