Distal muscle weakness-foot…
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Start free with EleplanDistal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy
ORPHA:700508Disease
Also called Sorbitol dehydrogenase deficiency
What it is
Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.
Key facts
- Age of onset
- Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Gene
SORDDisease-causing germline mutation(s) (loss of function)
Cross-references
OMIM 618912
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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