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MIRAGE
autosomal recessive distal hereditary motor neuronopathy 8
Summary
- Synonym
-
- SORDD
- 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.
- Super Class
- autosomal recessive distal hereditary motor neuronopathy
External Links
- Disease Ontology
- DOID:0081427
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q00796 | Sorbitol dehydrogenase |
