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obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy
Summary
- Definition
- A neuromuscular disease that is 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.
External Links
- Disease Ontology
- DOID:0081376
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002495 | Impaired vibratory sensation |
| HP:0007328 | Impaired pain sensation |
| HP:0001761 | Pes cavus |
| HP:0008994 | Proximal muscle weakness in lower limbs |
| HP:0003431 | Decreased motor nerve conduction velocity |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0008959 | Distal upper limb muscle weakness |
| HP:0002650 | Scoliosis |
| HP:0009053 | Distal lower limb muscle weakness |
| HP:0002355 | Difficulty walking |
