SORD

sorbitol dehydrogenase
OMIM: 182500, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green SORD in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.476

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM:618912
  • sorbitol dehydrogenase deficiency with peripheral neuropathy MONDO:0030055
Green SORD in Hereditary neuropathy or pain disorder


Version 3.83
Latest signed off version: v3.24 (15 May 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM:618912
  • sorbitol dehydrogenase deficiency with peripheral neuropathy MONDO:0030055