SORD

sorbitol dehydrogenase
OMIM: 182500
PanelMode of inheritanceDetails
1 panel
R-numbers: R78
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM:618912, sorbitol dehydrogenase deficiency with peripheral neuropathy MONDO:0030055