| Disease ID | Source | Name | Description |
| 618912 | OMIM | Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDD) | An autosomal recessive disorder characterized by motor axonal neuropathy, slowly progressive distal muscle weakness mainly affecting the lower limbs, difficulty walking, and increased serum sorbitol. Additional variable features are distal sensory impairment, upper limb tremor, scoliosis, and mild hearing loss. The disease is caused by variants affecting the gene represented in this entry. |