This table has been prepared by Dr Gisèle Bonne * - PhD and by Pr. François Rivier ** - MD, PhD
This website is developed and maintained by Dalil Hamroun** - PhD
* Sorbonne Université-Inserm, Centre of Research in Myology , Paris, France.
** Chu de Montpellier, Montpellier. France.
GT_NMD 2024 (updated 17/01/2024)
Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
SORD Sorbitol Dehydrogenase       | 15q21.1 | * Sorbitol dehydrogenase deficiency with peripheral neuropathy - SORDD (12.20, 14.101)* Neuropathy, hereditary motor, autosomal recessive 8 - HMNR8 (12.20, 14.101) |